Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD1
Variant:p.P251S
Back to variants list

PTCHD1

NM_173495.3:p.P251S

Associated Papers

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Aspromonte MC et al.

Human Genetics, 2025

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

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."