Varaico: Literature-Extracted Genetic Variants

Gene:CYCS
Variant:p.K80R
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CYCS

NM_018947.6:p.K80R

Associated Papers

New simple and quick method to analyze serum variant transthyretins: direct MALDI method for the screening of hereditary transthyretin amyloidosis.

Nomura T et al.

Orphanet Journal of Rare Diseases, 2019

Mitochondrial oxidative phosphorylation in autosomal dominant optic atrophy.

Mayorov VI et al.

Bmc Biochemistry, 2008

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.

Han J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

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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."