Varaico: Literature-Extracted Genetic Variants

Gene:HSD3B1
Variant:p.R279H
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HSD3B1

NM_000862.3:p.R279H

Associated Papers

Computational modeling of human genetic variants in mice.

Dong K et al.

Biorxiv : the Preprint Server for Biology, 2025

40060429 (PubMed )
Supplement: media-1.zip › Supp_Data_9_SMARCA2_4_and_Paralogous_Library.xlsx › Sheet2_Double-hit_BE_Lib

Rare variants in cardiomyopathy genes predispose to cardiac injury in severe COVID-19 patients of African or Hispanic ancestry.

Qu HQ et al.

Journal of Molecular Medicine (berlin, Germany), 2025

39730912 (PubMed )
Supplement: 109_2024_2510_MOESM2_ESM.xlsx › Sheet1

Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.

Bruzas S et al.

Cancers, 2021

34572791 (PubMed )
Supplement: cancers-13-04564-s001.zip › cancers-1336427-supplementary › Supplementary_material › Table_S1_-_Genetic_alterations_identified_by_NGS_in_95_patients_with_metastatic_breast_cancer.xlsx › Table_S1

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1
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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."