Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD1
Variant:p.M336I
Back to variants list

PTCHD1

NM_173495.3:p.M336I

Associated Papers

Contribution of common and rare variants of the PTCHD1 gene to autism spectrum disorders and intellectual disability.

Torrico B et al.

European Journal of Human Genetics : Ejhg, 2015

Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability.

Noor A et al.

Science Translational Medicine, 2010

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."