Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.V173L
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HNF1B

NM_000458.4:p.V173L

Associated Papers

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

Fontana P et al.

Genes, 2025

Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.

Duval H et al.

Prenatal Diagnosis, 2016

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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."