Varaico: Literature-Extracted Genetic Variants

Gene:COASY
Variant:p.R377L
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COASY

NM_025233.7:p.R377L

Associated Papers

Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.

Cavestro C et al.

Annals of Clinical and Translational Neurology, 2024

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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."