Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTCHD1

Variant:p.L278L

Back to variants list

PTCHD1

NM_173495.3:p.L278L

hg38:chrX:23380073 G>A

Associated Papers

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus.

Scala M et al.

American Journal of Human Genetics, 2025

39706195 (PubMed )

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."