Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.T6delFs
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HNF1B

NM_000458.4:p.T6delFs

Associated Papers

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Fontana P et al.

Genes, 2025

Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.

Mateus JC et al.

Clinical Diabetes and Endocrinology, 2020

32864159 (PubMed )
Supplement: 40842_2020_103_MOESM1_ESM.docx

Early development of hyperparathyroidism due to loss of PTH transcriptional repression in patients with HNF1β mutations?

Ferrè S et al.

The Journal of Clinical Endocrinology and Metabolism, 2013

Exocrine pancreatic function in hepatocyte nuclear factor 1β-maturity-onset diabetes of the young (HNF1B-MODY) is only moderately reduced: compensatory hypersecretion from a hypoplastic pancreas.

Tjora E et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2013

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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."