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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HNF1A

Variant:p.H143P

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HNF1A

NM_000545.8:p.H143P

hg38:chr12:120988934 A>C

Associated Papers

Characterisation of HNF1A variants in paediatric diabetes in Norway using functional and clinical investigations to unmask phenotype and monogenic diabetes.

Svalastoga P et al.

Diabetologia, 2023

37798422 (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."