Varaico: Literature-Extracted Genetic Variants

Gene:COX5B
Variant:p.Q125R
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COX5B

NM_001862.3:p.Q125R

Associated Papers

Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon.

Salman DO et al.

Frontiers in Genetics, 2022

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets
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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."