Varaico: Literature-Extracted Genetic Variants

Gene:DHCR7
Variant:p.R404H
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DHCR7

NM_001360.3:p.R404H

Associated Papers

Prevalence of Smith-Lemli-Opitz Syndrome Carriers and the Spectrum of DHCR7 Pathogenic Variants in Representative Czech and Hungarian Population Cohorts.

Kovács E et al.

Genes, 2026

Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children's Oncology Group AREN18B5-Q.

Murphy AJ et al.

Nature Communications, 2023

38110397 (PubMed )
Supplement: 41467_2023_43730_MOESM5_ESM.xlsx › COG
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