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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GIT2

Variant:p.G364D

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GIT2

NM_057169.5:p.G364D

hg38:chr12:109959855 C>T

Associated Papers

AG-348 enhances pyruvate kinase activity in red blood cells from patients with pyruvate kinase deficiency.

Kung C et al.

Blood, 2017

28760888 (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."