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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2A2

Variant:p.R614W

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ATP2A2

NM_170665.4:p.R614W

hg38:chr12:110340737 C>T

Associated Papers

Targeted transcript analysis in muscles from patients with genetically diverse congenital myopathies.

Bachmann C et al.

Brain Communications, 2022

36196089 (PubMed )

Supplement: fcac224_supplementary_data.docx

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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."