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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP5MC3

Variant:p.N106Y

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ATP5MC3

NM_001689.5:p.N106Y

hg38:chr2:175178401 T>A

Associated Papers

A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia.

Neilson DE et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

34636445 (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."