Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.N302K
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HNF1B

NM_000458.4:p.N302K

Associated Papers

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

Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

Heidet L et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2010

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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."