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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:H6PD

Variant:p.V271I

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H6PD

NM_004285.4:p.V271I

hg38:chr1:9262124 G>A

Associated Papers

Glutamate dehydrogenase: Structure of a hyperinsulinism mutant, corrections to the atomic model, and insights into a regulatory site.

Nassar OM et al.

Proteins, 2019

30367518 (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."