Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.G322R
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DHCR7

NM_001360.3:p.G322R

Associated Papers

Novel DHCR7 mutation in a case of Smith-Lemli-Opitz syndrome showing 46,XY disorder of sex development.

Tamura M et al.

Human Genome Variation, 2017

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Nowaczyk MJ et al.

American Journal of Medical Genetics. Part A, 2012

Smith-Lemli-Opitz syndrome.

DeBarber AE et al.

Expert Reviews in Molecular Medicine, 2011

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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."