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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HNF1B

Variant:p.G287S

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HNF1B

NM_000458.4:p.G287S

hg38:chr17:37731781 C>T

Associated Papers

Human mutations affect the epigenetic/bookmarking function of HNF1B.

Lerner J et al.

Nucleic Acids Research, 2016

27229139 (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."