All individuals with variants in gene ETFB

72 entries on 1 page. Showing entries 1 - 72.
Legend  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000001 - PubMed: Bell 2011 - - - - - - - - - ?, JBS - 1 1 LOVD-team, but with Curator vacancy
00000003 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000004 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000005 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000008 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000009 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000010 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000020 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000021 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000022 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000024 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - 0 - - BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000026 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000027 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000033 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000036 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000037 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000044 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000047 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000048 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000050 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000051 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000052 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000053 - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000054 - PubMed: Bell 2011 - - - - - - - - - ABL see paper; … 1 1 LOVD-team, but with Curator vacancy
00000055 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000056 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000057 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000061 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000062 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000063 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000064 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000065 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000067 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000068 - PubMed: Bell 2011 - - - - - - - - - - in vitro assay 1 1 LOVD-team, but with Curator vacancy
00000069 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000070 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000071 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000072 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000073 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000075 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000077 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000078 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000081 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000082 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000083 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000085 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000086 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000087 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000088 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000089 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000092 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000094 - PubMed: Bell 2011 - - - - - - - - - ? - 1 1 LOVD-team, but with Curator vacancy
00000096 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000097 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000099 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000100 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000101 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00035694 - - - - - Germany - - 0 - - ? suspected Lipidspeichermyopathie with loss of carnitine, Paraparese der Beine, severe leukoencephalopathy, generalisierte sensomotorische demyelinisierende PNP 1 1 Andreas Laner
00035695 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00181017 - - - - - - - - 0 - - MADD - 2 1 Maria Belen Perez Gonzalez
00183401 Patient XIII PubMed: Giugliano 2018 - F - Italy - - 0 - - MYOP onset adult, difficulty walking, muscle weakness lower limbs, elevated CPK (6x), respiratory function 1.24 (4330mL), atrial septum defect 1 1 Teresa Giugliano
Legend