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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HNF1A

Variant:p.M154insFs

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HNF1A

NM_000545.8:p.M154insFs

hg38:chr12:120988966 A>ACGGCATCCAGCACCTGC

Associated Papers

Reduced calcium levels and accumulation of abnormal insulin granules in stem cell models of HNF1A deficiency.

González BJ et al.

Communications Biology, 2022

35918471 (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."