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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HNF1B

Variant:p.R112fs

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HNF1B

NM_000458.4:p.R112fs

hg38:chr17:37744549 C>CN

Associated Papers

Hnf1b haploinsufficiency differentially affects developmental target genes in a new renal cysts and diabetes mouse model.

Niborski LL et al.

Disease Models & Mechanisms, 2021

33737325 (PubMed )

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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."