Varaico: Literature-Extracted Genetic Variants

Gene:RAB3GAP1
Variant:p.G325Splc
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RAB3GAP1

NM_012233.3:p.G325Splc

Associated Papers

Novel, homozygous RAB3GAP1 c.2606 + 1G>A, p.Glu830ValfsTer9 variant and chromosome 3q29 duplication in a Turkish individual with Warburg micro syndrome.

Geckinli B et al.

Clinical Dysmorphology, 2023

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