Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.A270D
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CAT

NM_001752.4:p.A270D

Associated Papers

Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria.

Puy H et al.

American Journal of Human Genetics, 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."