Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.W113*
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HNF1A

NM_000545.8:p.W113*

Associated Papers

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

Genomic analysis of plasma circulating tumor DNA in patients with heavily pretreated HER2 + metastatic breast cancer.

Lee K et al.

Scientific Reports, 2023

37336919 (PubMed )
Supplement: 41598_2023_35925_MOESM1_ESM.xlsx › Table_S4__patho_variants_

Distinct Somatic Alteration Features Identified by Gene Panel Sequencing in Korean Triple-Negative Breast Cancer with High Ki67 Expression.

Sun WY et al.

Diagnostics (basel, Switzerland), 2021

33804295 (PubMed )
Supplement: diagnostics-11-00416-s001.pdf

Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.

Mohan V et al.

Bmc Medical Genetics, 2018

New HNF-1α nonsense mutation causes maturity-onset diabetes of the young type 3.

Nogaroto V et al.

Clinics (sao Paulo, Brazil), 2011

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S et al.

Human Mutation, 2006

IPF-1/MODY4 gene missense mutation in an Italian family with type 2 and gestational diabetes.

Gragnoli C et al.

Metabolism: Clinical and Experimental, 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."