Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.V340V
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DHCR7

NM_001360.3:p.V340V

Associated Papers

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE et al.

Annals of Human Genetics, 2003

Novel mutation in the Delta7-dehydrocholesterol reductase gene in an Australian patient with Smith-Lemli-Opitz syndrome.

Evans T et al.

American Journal of Medical Genetics, 2001

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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."