Full data view for gene PYGM

Information The variants shown are described using the NM_005609.2 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.148C>G r.(?) p.(Arg50Gly) Unknown ACMG pathogenic (recessive) g.64527223G>A g.64759751G>C - - PYGM_000002 - - - rs116987552 Germline ? - - - - DNA SEQ-NG - - GSD5 - - - F no Chile - >18y - - - 1 Amalia Laso
+/. 1 c.148C>T r.148c>u p.Arg50* Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Tsujino 1993, OMIM:var0001 - rs116987552 Unknown - - - - - DNA, RNA RT-PCR, SEQ - - GSD5 - PubMed: Tsujino 1993 2/40 homozygous patients - - United States - - - - - 2 Gisela Nogales
+/. 1 c.148C>T r.(?) p.(Arg50*) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Tsujino 1993, OMIM:var0001 - rs116987552 Unknown - - - - - DNA SEQ - - GSD5 - PubMed: Tsujino 1993 16/40 homozygous patients - - United States - - - - - 16 Gisela Nogales
+/. 1 c.148C>T r.148c>u p.Arg50* Parent #1 - pathogenic g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Tsujino 1993, OMIM:var0001 - rs116987552 Unknown - - - - - DNA SEQ - - GSD5 - PubMed: Tsujino 1993 2-generation family, compound heterozygous mother of 3 affected children - - United States - - - - - 1 Gisela Nogales
+/. 1 c.148C>T r.0 p.0 Parent #2 - pathogenic g.64527223G>A g.64759751G>A R50X - PYGM_000002 - PubMed: Garcia-Consuegra 2009 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - GSD5 - PubMed: Garcia-Consuegra 2009 - - - Spain - - - - - 1 Gisela Nogales
+/. 1 c.148C>T r.(?) p.(Arg50*) Maternal (confirmed) - pathogenic g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Tsujino 1993, OMIM:var0001 - rs116987552 Germline - - - - - DNA SEQ - - GSD5 - PubMed: Tsujino 1993 2-generation family, compound heterozygous 2nd son/daugther - - United States - - - - - 1 Gisela Nogales
+/. 1 c.148C>T r.0 p.0 Parent #2 - pathogenic g.64527223G>A g.64759751G>A R50X - PYGM_000002 no RNA detected PubMed: Garcia-Consuegra 2009 - - Unknown - - - - - DNA, RNA RT-PCR, SEQ - - GSD5 - PubMed: Garcia-Consuegra 2009 - - - Spain - - - - - 1 Gisela Nogales
+/. 1 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Bartram 1994 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: Bartram 1994 - - - United Kingdom (Great Britain) - - - - - 1 Gisela Nogales
+/. 1 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - - - - Germline - - - - - DNA SEQ - - GSD5 - - - F no Spain - - - - - 1 Irene Vieitez
+/. 1 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - - - - Unknown - - - - - DNA SEQ - - GSD5 - - - M ? Spain - - - - - 1 Irene Vieitez
+/+ 1 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - - - - Germline yes - - - - DNA SEQ - - GSD5 - - - M ? - - - - - - 1 Irene Vieitez
+/. 1 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic (recessive) g.64527223G>A g.64759751G>A R49X - PYGM_000002 - PubMed: Martin 2001 - - Germline/De novo (untested) - - - - - DNA SEQ - - GSD5 ?/Pat197 PubMed: Martin 2001, PubMed: Park 2017 - - - Spain - - - - - 1 Gisela Nogales
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A g.64759751G>A PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*) - PYGM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.148C>T r.(?) p.(Arg50*) Unknown - likely pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 combination of variants not reported PubMed: Topf 2020 - - Germline - 2/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 2 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A - PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*) - PYGM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A - PYGM(NM_001164716.1):c.148C>T (p.R50*), PYGM(NM_005609.4):c.148C>T (p.R50*) - PYGM_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 ACMG pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 ACMG PVS1, PS3, PM3, PP1 PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P36/Myo099 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) ACMG pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 ACMG PVS1, PS3, PM3_Strong, PP4, BS1 PubMed: Cerino 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel MYOP P77/Myo153 PubMed: Cerino 2022 analysis 82 myopathy patients - - Chile - - - - - 1 Johan den Dunnen
?/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) ACMG pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - Pending - - Germline - - - - - DNA SEQ-NG-I - WGS GSD5 - Pending - M - France - - - - - 2 Camille Verebi
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+?/. - c.148C>T r.(?) p.(Arg50*) Unknown - likely pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Mohamed 2026 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - rhabdomyolysis panel ? Pat1 PubMed: Mohamed 2026 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Rubegni 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 78-gene panel hCK Pat32 PubMed: Rubegni 2019 patient M - Italy - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? ED213 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? IH214 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 336-gene panel ? SS215 PubMed: Beecroft 2020 analysis 2249 neurology patients M - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Beecroft 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 464-gene panel ? CE1264 PubMed: Beecroft 2020 analysis 2249 neurology patients F - (Australia);(New Zealand) - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Unknown - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat52 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat53 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat54 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat55 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat56 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat57 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Kruijt 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES hCK Pat58 PubMed: Kruijt 2021 patient - - Netherlands - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD356 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD357 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD358 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD359 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD360 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD361 PubMed: Nallamilli 2023 - - - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD362 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD363 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD364 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD365 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD366 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD367 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD368 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Both (homozygous) - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD369 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD371 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD372 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD373 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD374 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD375 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD376 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD377 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD378 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD379 PubMed: Nallamilli 2023 - M - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD382 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(?) p.(Arg50Ter) Parent #1 - pathogenic (recessive) g.64527223G>A g.64759751G>A - - PYGM_000002 - PubMed: Nallamilli 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - 66-gene panel NMD ARMD383 PubMed: Nallamilli 2023 - F - United States - - - - - 1 Johan den Dunnen
+/. 1 c.148C>T r.(148C>T) p.(Arg50Ter) Unknown ACMG pathogenic g.64527223G>A g.64759751G>A - - PYGM_000002 - - - - Germline ? - - - - DNA SEQ-NG blood NGS Invitae 230 NMD genes GSD5 Myo098 - - F no Chile hispanic >41 - yes - 1 JA Bevilacqua
+?/. 17 c.2053A>T r.(?) p.(Asn685Tyr) Parent #1 - likely pathogenic g.64517972T>A g.64750500T>A N684Y - PYGM_000002 - PubMed: abstract 10382911 - - Unknown - - - - - DNA SEQ - - GSD5 - PubMed: abstract 10382911 - - - - - - - - - 1 Gisela Nogales
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