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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BRCA1

Variant:p.S454G

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BRCA1

NM_007294.4:p.S454G

hg38:chr17:43094171 T>C

Associated Papers

Functional Investigations of HNF1A Identify Rare Variants as Risk Factors for Type 2 Diabetes in the General Population.

Najmi LA et al.

Diabetes, 2017

27899486 (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."