Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.P335R
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DHCR7

NM_001360.3:p.P335R

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

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure

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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