Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.R362S
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DHCR7

NM_001360.3:p.R362S

Associated Papers

Carrier frequency and incidence estimation of Smith-Lemli-Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis.

Park JE et al.

Orphanet Journal of Rare Diseases, 2021

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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."