Varaico: Literature-Extracted Genetic Variants

Gene:ARHGEF9
Variant:p.V19M
Back to variants list

ARHGEF9

NM_001173479.2:p.V19M

Associated Papers

ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation.

Alber M et al.

Neurology. Genetics, 2017

Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.

Bhat G et al.

European Journal of Medical Genetics, 2016

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.

Shimojima K et al.

Journal of Human Genetics, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."