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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CS

Variant:p.H301Y

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CS

NM_004077.3:p.H301Y

hg38:chr12:56275019 G>A

Associated Papers

ADCK3-related Coenzyme Q10 Deficiency: A Potentially Treatable Genetic Disease.

Chang A et al.

Movement Disorders Clinical Practice, 0

30637285 (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."