Varaico: Literature-Extracted Genetic Variants

Gene:D2HGDH
Variant:p.E475A
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D2HGDH

NM_152783.5:p.E475A

Associated Papers

Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations.

Yang J et al.

Cell Discovery, 2021

33431826 (PubMed )
Supplement: 41421_2020_227_MOESM1_ESM.pdf
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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."