Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.R822fs
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ATP2A1

NM_004320.6:p.R822fs

Associated Papers

Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.

Huang CY et al.

Bmc Cancer, 2025

41068688 (PubMed )
Supplement: 12885_2025_15053_MOESM2_ESM.xlsx › Table.S4

Case report: Clinical and molecular characterization of two siblings affected by Brody myopathy.

Velardo D et al.

Frontiers in Neurology, 2023

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

Brody myopathy demonstrates a pseudo-increment on repetitive nerve stimulation.

Masingue M et al.

Muscle & Nerve, 2020

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."