Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.G344D
Back to variants list

DHCR7

NM_001360.3:p.G344D

Associated Papers

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

Boland MR et al.

The Pharmacogenomics Journal, 2016

Recent insights into the Smith-Lemli-Opitz syndrome.

Yu H et al.

Clinical Genetics, 2005

3beta-hydroxysterol Delta7-reductase and the Smith-Lemli-Opitz syndrome.

Correa-Cerro LS et al.

Molecular Genetics and Metabolism, 2005

A novel mutation of the human 7-dehydrocholesterol reductase gene reduces enzyme activity in patients with holoprosencephaly.

Shim YH et al.

Biochemical and Biophysical Research Communications, 2004

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."