Variant: rs121908462

present in Gene: ADGRG1 present in Chromosome: 16 Position on Chromosome: 57651247 Alleles of this Variant: C/A;T

rs121908462 in ADGRG1 gene and POLYMICROGYRIA, BILATERAL FRONTOPARIETAL PMID 22238662 2012 Disease-associated mutations prevent GPR56-collagen III interaction.

PMID 16240336 2005 Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes.

PMID 24949629 2014 Mechanism for adhesion G protein-coupled receptor GPR56-mediated RhoA activation induced by collagen III stimulation.

PMID 21723461 2011 A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria.

PMID 15044805 2004 G protein-coupled receptor-dependent development of human frontal cortex.

PMID 21349848 2011 Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.