Varaico: Literature-Extracted Genetic Variants

Gene:P4HB
Variant:p.Y393S
Back to variants list

P4HB

NM_000918.4:p.Y393S

Associated Papers

Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB.

Rauch F et al.

American Journal of Human Genetics, 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."