Varaico: Literature-Extracted Genetic Variants

Gene:NBAS
Variant:p.R1131H
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NBAS

NM_015909.4:p.R1131H

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4a.xlsx › Table_S4a

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Maciąg A et al.

Bmc Genetics, 2015

25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AN-A0FW-01A.domain
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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."