Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.I216_V217Splc
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ANO5

NM_213599.3:p.I216_V217Splc

Associated Papers

Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort.

de Bruyn A et al.

Brain : a Journal of Neurology, 2023

Diagnostic muscle biopsies in the era of genetics: the added value of myopathology in a selection of limb-girdle muscular dystrophy patients.

De Paepe B et al.

Acta Neurologica Belgica, 2021

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 › .

Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.

Savarese M et al.

Neuromuscular Disorders : Nmd, 2015

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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."