Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.Y274*
Back to variants list

CAT

NM_001752.4:p.Y274*

Associated Papers

DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.

Scalco FB et al.

American Journal of Medical Genetics. Part A, 2005

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."