Varaico: Literature-Extracted Genetic Variants

Gene:HPGDS
Variant:p.F48Y
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HPGDS

NM_014485.3:p.F48Y

Associated Papers

Specificity determinants for the pyruvate dehydrogenase component reaction mapped with mutated and prosthetic group modified lipoyl domains.

Gong X et al.

The Journal of Biological Chemistry, 2000

Expression and regulation of mutant forms of cardiac TnI in a reconstituted actomyosin system: role of kinase dependent phosphorylation.

Malhotra A et al.

Molecular and Cellular Biochemistry, 1997

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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."