Condition: Martsolf syndrome


rs1553437083 in RAB3GAP1 gene and Martsolf syndrome PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

rs121434310 in RAB3GAP2 gene and Martsolf syndrome PMID 16532399 2006 Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.

PMID 23420520 2013 Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.

PMID 24891604 2014 Rab18 and a Rab18 GEF complex are required for normal ER structure.