Varaico: Literature-Extracted Genetic Variants

Gene:CDK5RAP2
Variant:p.L259R
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CDK5RAP2

NM_018249.6:p.L259R

Associated Papers

A mitochondrial ATPase 6 mutation is associated with Leigh syndrome in a family and affects proton flow and adenosine triphosphate output when modeled in Escherichia coli.

Carrozzo R et al.

Acta Paediatrica (oslo, Norway : 1992). Supplement, 2004

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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."