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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PKP4

Variant:p.K1081K

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PKP4

NM_003628.6:p.K1081K

hg38:chr2:158676854 A>G

Associated Papers

Survival transcriptome in the coenzyme Q10 deficiency syndrome is acquired by epigenetic modifications: a modelling study for human coenzyme Q10 deficiencies.

Fernández-Ayala DJ et al.

Bmj Open, 2013

23533218 (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."