Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.I235N
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ATP2A1

NM_004320.6:p.I235N

Associated Papers

Case report: Revealing the rare-a Brody Disease patient from Turkey expanding the phenotype.

Şahin A et al.

Frontiers in Genetics, 2023

Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility.

Sambuughin N et al.

Molecular Genetics & Genomic Medicine, 2014

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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."