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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HCCS

Variant:p.E140K

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HCCS

NM_005333.5:p.E140K

hg38:chrX:11118517 G>A

Associated Papers

Mitochondrial Neurodegeneration.

Zeviani M et al.

Cells, 2022

35203288 (PubMed )

Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology.

Ghezzi D et al.

Advances in Experimental Medicine and Biology, 2012

22729855 (PubMed )

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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."