Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.R352L
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DHCR7

NM_001360.3:p.R352L

Associated Papers

Investigation of 7-dehydrocholesterol reductase pathway to elucidate off-target prenatal effects of pharmaceuticals: a systematic review.

Boland MR et al.

The Pharmacogenomics Journal, 2016

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Waterham HR et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012

Smith-Lemli-Opitz syndrome among Arabs.

Al-Owain M et al.

Clinical Genetics, 2012

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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."