Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.F255insFs
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DHCR7

NM_001360.3:p.F255insFs

Associated Papers

DHCR7 and Smith-Lemli-Opitz syndrome.

Nowaczyk MJ et al.

Clinical and Investigative Medicine. Medecine Clinique Et Experimentale, 2001

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.

Nowaczyk MJ et al.

Clinical Genetics, 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."