Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.D175N
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DHCR7

NM_001360.3:p.D175N

Associated Papers

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Mellone S et al.

Frontiers in Genetics, 2022

36035117 (PubMed )
Supplement: Table2.pdf

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

27401223 (PubMed )
Supplement: tpj201648x2.xlsx › Sheet1

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."