Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.L286V
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HNF1B

NM_000458.4:p.L286V

Associated Papers

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

Fontana P et al.

Genes, 2025

Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.

Buffin-Meyer B et al.

Kidney International Reports, 2024

39156164 (PubMed )
Supplement: mmc1.pdf

Hepatocyte Nuclear Factor-1β Controls Mitochondrial Respiration in Renal Tubular Cells.

Casemayou A et al.

Journal of the American Society of Nephrology : Jasn, 2017

Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal Transplantation.

Faguer S et al.

Transplantation, 2016

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.

Faguer S et al.

Kidney International, 2011

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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."