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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP2A1

Variant:p.P26Q

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ATP2A1

NM_004320.6:p.P26Q

hg38:chr16:28878748 C>A

Associated Papers

Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia.

Hashimoto Y et al.

The Journal of Biological Chemistry, 2014

24668814 (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."