Varaico: Literature-Extracted Genetic Variants

Gene:PTCHD1
Variant:p.R691*
Back to variants list

PTCHD1

NM_173495.3:p.R691*

Associated Papers

CRISPR-Cas9-generated PTCHD1 2489T>G stem cells recapitulate patient phenotype when undergoing neural induction.

Farley KO et al.

Hgg Advances, 2024

38007613 (PubMed )
Supplement: mmc2.xlsx › Table_S2

PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene.

Pastore SF et al.

Genes, 2022

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."