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Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome
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Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome
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Journal Article
Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome
2015
Overview
Warburg micro syndrome is an autosomal recessive disease where patients present with optic, neurologic and genital symptoms. Until now, four disease genes for Warburg micro syndrome,
RAB3GAP1
,
RAB3GAP2
,
RAB18
and
TBC1D20
, have been identified. Here, we report two novel homozygous
RAB3GAP1
mutations (c.22G>T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing.
Publisher
Nature Publishing Group UK,Springer Nature B.V,Nature Publishing Group
Subject
