Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.V353delFs
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DHCR7

NM_001360.3:p.V353delFs

Associated Papers

Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Bonfiglio F et al.

Ebiomedicine, 2023

36493725 (PubMed )
Supplement: mmc1.xlsx › Table_S8

Smith-Lemli-Opitz syndrome carrier frequency and estimates of in utero mortality rates.

Lazarin GA et al.

Prenatal Diagnosis, 2017

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

Recent insights into the Smith-Lemli-Opitz syndrome.

Yu H et al.

Clinical Genetics, 2005

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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."