Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.D54V
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CAT

NM_001752.4:p.D54V

Associated Papers

Hepatocyte nuclear factor 1 alpha (HNF-1 alpha) mutations in maturity-onset diabetes of the young.

Ellard S

Human Mutation, 2000

Close approximation of putative alpha -helices II, IV, VII, X, and XI in the translocation pathway of the lactose transport protein of Streptococcus thermophilus.

Veenhoff LM et al.

The Journal of Biological Chemistry, 2000

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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."