Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.E121insFs
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ATP2A1

NM_004320.6:p.E121insFs

Associated Papers

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 › .

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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