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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HNF1B

Variant:p.E178*

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HNF1B

NM_000458.4:p.E178*

hg38:chr17:37739452 C>A

Associated Papers

Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.

Buhur Pirimoglu M et al.

Irish Journal of Medical Science, 2025

40715678 (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."