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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADCK2

Variant:p.R333*

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ADCK2

NM_052853.4:p.R333*

hg38:chr7:140674674 C>T

Associated Papers

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.

Vázquez-Fonseca L et al.

Journal of Clinical Medicine, 2019

31480808 (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."