Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.N407S
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DHCR7

NM_001360.3:p.N407S

Associated Papers

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM10_ESM.xlsx › Supplementary_Data_7

Smith-Lemli-Opitz syndrome: clinical and biochemical correlates.

Donoghue SE et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

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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."