Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.H336fs
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HNF1B

NM_000458.4:p.H336fs

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 mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals.

Bansal V et al.

Bmc Medicine, 2017

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