Varaico: Literature-Extracted Genetic Variants

Gene:RAB18
Variant:p.R92del1
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RAB18

NM_021252.5:p.R92del1

Associated Papers

Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

Handley MT et al.

Human Mutation, 2013

Loss-of-function mutations in RAB18 cause Warburg micro syndrome.

Bem D et al.

American Journal of Human Genetics, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."