Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.Q175*
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HNF1A

NM_000545.8:p.Q175*

Associated Papers

The diagnostic yield of exome sequencing in liver diseases from a curated gene panel.

Kong XF et al.

Scientific Reports, 2023

38057357 (PubMed )
Supplement: 41598_2023_42202_MOESM3_ESM.xlsx › Liver_CLD_cohort

Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts.

Mirshahi UL et al.

American Journal of Human Genetics, 2022

36257325 (PubMed )
Supplement: mmc2.xlsx › MODY_Probands

The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3.

Bellanné-Chantelot C et al.

Diabetes, 2008

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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."