Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.C601*
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ANO5

NM_213599.3:p.C601*

Associated Papers

Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype.

Anandan C et al.

Muscle & Nerve, 2019

Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase.

Kristjansson RP et al.

Nature Communications, 2016

ANO5-muscular dystrophy: clinical, pathological and molecular findings.

Liewluck T et al.

European Journal of Neurology, 2013

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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."