Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.Y280C
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CAT

NM_001752.4:p.Y280C

Associated Papers

Recombinant γY278H Fibrinogen Showed Normal Secretion from CHO Cells, but a Corresponding Heterozygous Patient Showed Hypofibrinogenemia.

Kamijo T et al.

International Journal of Molecular Sciences, 2021

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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."