Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.D254_G255Splc
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ANO5

NM_213599.3:p.D254_G255Splc

Associated Papers

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

Anandan C et al.

Muscle & Nerve, 2019

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

Savarese M et al.

Neuromuscular Disorders : Nmd, 2015

25891276 (PubMed )
Supplement: mmc3.xls › EVS_variant_download_GeneName_A

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.

Sarkozy A et al.

Human Mutation, 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."