Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.P291S
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HNF1A

NM_000545.8:p.P291S

Associated Papers

The contribution of functional HNF1A variants and polygenic susceptibility to risk of type 2 diabetes in ancestrally diverse populations.

Stalbow LA et al.

Diabetologia, 2023

36216889 (PubMed )
Supplement: 125_2022_5806_MOESM2_ESM.xlsx › ESM_Table_1

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_1.xlsx › S_Data_1

Unsupervised Clustering of Missense Variants in HNF1A Using Multidimensional Functional Data Aids Clinical Interpretation.

Althari S et al.

American Journal of Human Genetics, 2020

Residual β cell function and monogenic variants in long-duration type 1 diabetes patients.

Yu MG et al.

The Journal of Clinical Investigation, 2019

Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.

Tung JY et al.

Pediatric Diabetes, 2018

Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

Stanescu DE et al.

The Journal of Clinical Endocrinology and Metabolism, 2012

Three novel mutations in MODY and its phenotype in three different Czech families.

Bazalová Z et al.

Diabetes Research and Clinical Practice, 2010

Report of Prolonged Neonatal Hypoglycemia in Three Infants of Mothers With Variants in HNF1A.

Cromer SJ et al.

Aace Clinical Case Reports, 0

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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."