Varaico: Literature-Extracted Genetic Variants

Gene:GAPDH
Variant:p.K5E
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GAPDH

NM_002046.7:p.K5E

Associated Papers

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

Benito-Vicente A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

Crystal structure of NADP(H)-dependent 1,5-anhydro-D-fructose reductase from Sinorhizobium morelense at 2.2 A resolution: construction of a NADH-accepting mutant and its application in rare sugar synthesis.

Dambe TR et al.

Biochemistry, 2006

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