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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HNF1A

Variant:p.S93T

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HNF1A

NM_000545.8:p.S93T

hg38:chr12:120979046 G>C

Associated Papers

Clinical and genetic heterogeneity of HNF4A/HNF1A mutations in a multicentre paediatric cohort with hyperinsulinaemic hypoglycaemia.

McGlacken-Byrne SM et al.

European Journal of Endocrinology, 2022

35089870 (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."