Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.R363H
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DHCR7

NM_001360.3:p.R363H

Associated Papers

Computational Investigation of the Missense Mutations in DHCR7 Gene Associated with Smith-Lemli-Opitz Syndrome.

Peng Y et al.

International Journal of Molecular Sciences, 2018

29300326 (PubMed )
Supplement: ijms-19-00141-s001.pdf

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets.

Cross JL et al.

Clinical Genetics, 2015

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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."