Varaico: Literature-Extracted Genetic Variants

Gene:SDS
Variant:p.L79F
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SDS

NM_006843.3:p.L79F

Associated Papers

SLCO1B1: Application and Limitations of Deep Mutational Scanning for Genomic Missense Variant Function.

Zhang L et al.

Drug Metabolism and Disposition: the Biological Fate of Chemicals, 2021

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Melchionda L et al.

American Journal of Human Genetics, 2014

Simultaneous optimization of enzyme activity and quaternary structure by directed evolution.

Vamvaca K et al.

Protein Science : a Publication of the Protein Society, 2005

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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."