Varaico: Literature-Extracted Genetic Variants

Gene:PCDH7
Variant:p.R382S
Back to variants list

PCDH7

NM_001173523.2:p.R382S

Associated Papers

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Kröll-Hermi A et al.

American Journal of Human Genetics, 2025

41260215 (PubMed )
Supplement: mmc5.pdf
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."