Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.H442R
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DHCR7

NM_001360.3:p.H442R

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

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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."