Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.L323L
Back to variants list

DHCR7

NM_001360.3:p.L323L

Associated Papers

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Waterham HR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE et al.

Annals of Human Genetics, 2003

Mutations in the human DHCR7 gene.

Witsch-Baumgartner M et al.

Human Mutation, 2001

Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.

Witsch-Baumgartner M et al.

American Journal of Human Genetics, 2000

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."