Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.K305E
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HNF1B

NM_000458.4:p.K305E

Associated Papers

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

Fontana P et al.

Genes, 2025

Frequency and characterization of mutations in genes in a large cohort of patients referred to MODY registry.

Breidbart E et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021

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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."