Varaico: Literature-Extracted Genetic Variants

Gene:MED25
Variant:p.K102N
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MED25

NM_030973.4:p.K102N

Associated Papers

Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.

de Franchis R et al.

Human Molecular Genetics, 1994

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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."