Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.T82M
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HNF1A

NM_000545.8:p.T82M

Associated Papers

Identification of novel pathogenic variants in genes related to pancreatic β cell function: A multi-center study in Chinese with young-onset diabetes.

Yu F et al.

Chinese Medical Journal, 2025

40178110 (PubMed )
Supplement: cm9-138-1129-s001.pdf

Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.

Yang M et al.

Npj Precision Oncology, 2025

40089605 (PubMed )
Supplement: 41698_2025_864_MOESM1_ESM.pdf

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

A new screening strategy and whole-exome sequencing for the early diagnosis of maturity-onset diabetes of the young.

Liu Y et al.

Diabetes/metabolism Research and Reviews, 2021

Distinct genomic profile in h. pylori-associated gastric cancer.

Zhang X et al.

Cancer Medicine, 2021

33751865 (PubMed )
Supplement: CAM4-10-2461-s001.xlsx › somatic_muts.gastric_samples.le

Choroid Plexus Carcinomas With TP53 Germline Mutations: Management and Outcome.

Li Y et al.

Frontiers in Oncology, 2021

34660315 (PubMed )
Supplement: DataSheet_1.zip › original_data › 1_Plus_P2011140015___________panel825plus_2020.11.20-final.pdf

The HNF-1alpha-SNARE connection.

Yamagata K et al.

Diabetes, Obesity & Metabolism, 2007

[The genetic and clinical characteristics of transcription factor 1 gene mutations in Chinese diabetes].

Yang Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2007

Identification of four novel mutations in the HNF-1A gene in Chinese early-onset and/or multiplex diabetes pedigrees.

Yang Z et al.

Chinese Medical Journal, 2006

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