Varaico: Literature-Extracted Genetic Variants

Gene:OBSL1
Variant:p.R284H
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OBSL1

NM_015311.3:p.R284H

Associated Papers

Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.

Lee S et al.

Journal of Breast Cancer, 2025

41311331 (PubMed )
Supplement: jbc-28-406-s001.xls › jbc-28-406-s001

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

A dominant variant in apoptosis-related gene XKR8 is relevant to hereditary auditory neuropathy.

Chen K et al.

Journal of Translational Medicine, 2023

37101210 (PubMed )
Supplement: 12967_2023_4139_MOESM1_ESM.xlsx › all.byhand.hg19

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Coding Variants Coupled With Rapid Modeling in Zebrafish Implicate Dynein Genes, dnaaf1 and zmynd10, as Adolescent Idiopathic Scoliosis Candidate Genes.

Wang Y et al.

Frontiers in Cell and Developmental Biology, 2020

33251213 (PubMed )
Supplement: Data_Sheet_1.XLSX › S5.Clinical_SNVs
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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."