Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.R799*
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ANO5

NM_213599.3:p.R799*

Associated Papers

Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre.

Babić Božović I et al.

Plos One, 2021

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."