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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HNF1B

Variant:p.F62V

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HNF1B

NM_000458.4:p.F62V

hg38:chr17:37744701 A>C

Associated Papers

Individuals heterozygous for ALG8 protein-truncating variants are at increased risk of a mild cystic kidney disease.

Apple B et al.

Kidney International, 2023

36574950 (PubMed )

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