All individuals with variants in gene BCL2L2-PABPN1

29 entries on 1 page. Showing entries 1 - 29.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00410026 D3 PubMed: Braverman 2017 family D (BJ) brother of 4 and 5 M yes - - 56y - - - retinal disease retinal dystrophy and clinically definite oculopharyngeal muscular dystrophy, early onset 1 1 LOVD
00410027 D4 PubMed: Braverman 2017 family D (BJ) sister of 5 and 3 F yes - - 51y - - - retinal disease retinal dystrophy and clinically definite oculopharyngeal muscular dystrophy, early onset 1 1 LOVD
00410028 D5 PubMed: Braverman 2017 family D (BJ) brother of 4 and 3 M yes - - 50y - - - retinal disease retinal dystrophy and clinically definite oculopharyngeal muscular dystrophy, early onset 1 1 LOVD
00410029 D1 PubMed: Braverman 2017 family D (BJ) father of 3, 4, 5 M yes - - 72y - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset 1 1 LOVD
00410030 D2 PubMed: Braverman 2017 family D (BJ) mother of 3, 4, 5 F yes - - 89y - - - OPMD oculopharyngeal muscular dystrophy, late onset 1 1 LOVD
00410031 A2 PubMed: Braverman 2017 family D (BJ) son of 5 M - - - - - - - OPMD no retinal dystrophy, OPMD - currently asymptomatic 1 1 LOVD
00410032 A1 PubMed: Braverman 2017 family A, mother of 2 and 3 F - - - - - - - retinal disease retinal dystrophy and clinically definite oculopharyngeal muscular dystrophy, early onset 1 1 LOVD
00410033 A2 PubMed: Braverman 2017 family A, daughter1 of 1 F - - - - - - - OPMD no retinal dystrophy, OPMD - currently asymptomatic 1 1 LOVD
00410034 A3 PubMed: Braverman 2017 family A, daughter2 of 1 F - - - - - - - OPMD no retinal dystrophy, OPMD - currently asymptomatic 1 1 LOVD
00410035 B PubMed: Braverman 2017 family B F - - - - - - - retinal disease oculopharyngeal muscular dystrophy, early onset 1 1 LOVD
00410036 C PubMed: Braverman 2017 family C M - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410037 E PubMed: Braverman 2017 family E F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410038 F PubMed: Braverman 2017 family F F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410039 G PubMed: Braverman 2017 family G M - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410040 H PubMed: Braverman 2017 family H M - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410041 I PubMed: Braverman 2017 family I F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410042 J PubMed: Braverman 2017 family J F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410043 K PubMed: Braverman 2017 family K F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410044 L PubMed: Braverman 2017 family L F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410045 M PubMed: Braverman 2017 family M F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410046 N PubMed: Braverman 2017 family N F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410047 O PubMed: Braverman 2017 family O F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410048 P PubMed: Braverman 2017 family P F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410049 Q PubMed: Braverman 2017 family Q F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410050 R PubMed: Braverman 2017 family R M - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410051 S PubMed: Braverman 2017 family S M - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410052 T PubMed: Braverman 2017 family T F - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410053 U PubMed: Braverman 2017 family U M - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
00410054 V PubMed: Braverman 2017 family V M - - - - - - - OPMD clinically definite oculopharyngeal muscular dystrophy, late onset; no retinal dystrophy 1 1 LOVD
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