Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.S254_F255insFs
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DHCR7

NM_001360.3:p.S254_F255insFs

Associated Papers

Mutational spectrum of Smith-Lemli-Opitz syndrome.

Waterham HR et al.

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

Recent insights into the Smith-Lemli-Opitz syndrome.

Yu H et al.

Clinical Genetics, 2005

Smith-Lemli-Opitz syndrome and the DHCR7 gene.

Jira PE et al.

Annals of Human Genetics, 2003

Mutations in the human DHCR7 gene.

Witsch-Baumgartner M et al.

Human Mutation, 2001

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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."