Varaico: Literature-Extracted Genetic Variants

Gene:ETV6
Variant:p.E300K
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ETV6

NM_001987.5:p.E300K

Associated Papers

Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme.

Bross P et al.

The Journal of Biological Chemistry, 1995

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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."