Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.G286V
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ATP2A1

NM_004320.6:p.G286V

Associated Papers

CFTR corrector C17 rescues defective SERCA1 in bovine pseudomyotonia: a potential therapy for Brody myopathy.

Akyürek EE et al.

Human Molecular Genetics, 2025

Differential Analysis of Gly211Val and Gly286Val Mutations Affecting Sarco(endo)plasmic Reticulum Ca2+-ATPase (SERCA1) in Congenital Pseudomyotonia Romagnola Cattle.

Akyürek EE et al.

International Journal of Molecular Sciences, 2022

KDM2B-associated paunch calf syndrome in Marchigiana cattle.

Murgiano L et al.

Journal of Veterinary Internal Medicine, 2020

Structural study of skeletal muscle fibres in healthy and pseudomyotonia affected cattle.

Mascarello F et al.

Annals of Anatomy = Anatomischer Anzeiger : Official Organ of the Anatomische Gesellschaft, 2016

Pseudomyotonia in Romagnola cattle caused by novel ATP2A1 mutations.

Murgiano L et al.

Bmc Veterinary Research, 2012

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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."