Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A3
Variant:p.R164H
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ATP2A3

NM_005173.4:p.R164H

Associated Papers

Fast-twitch skeletal muscle fiber adaptation to SERCA1 deficiency in a Dutch Improved Red and White calf pseudomyotonia case.

Dorotea T et al.

Neuromuscular Disorders : Nmd, 2015

A defective SERCA1 protein is responsible for congenital pseudomyotonia in Chianina cattle.

Sacchetto R et al.

The American Journal of Pathology, 2009

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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."