Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.A314T
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HNF1B

NM_000458.4:p.A314T

Associated Papers

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

Fontana P et al.

Genes, 2025

Unexpectedly high prevalence of rare genetic disorders in kidney transplant recipients with an unknown causal nephropathy.

Quaglia M et al.

Clinical Transplantation, 2014

Chronic renal failure of unknown origin is caused by HNF1B mutations in 9% of adult patients: a single centre cohort analysis.

Musetti C et al.

Nephrology (carlton, Vic.), 2014

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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."