Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.P147fs
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ATP2A1

NM_004320.6:p.P147fs

Associated Papers

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

Şahin A et al.

Frontiers in Genetics, 2023

Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients.

Molenaar JP et al.

Brain : a Journal of Neurology, 2020

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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."