Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.A94T
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ANO5

NM_213599.3:p.A94T

Associated Papers

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

Castilla-Vallmanya L et al.

International Journal of Molecular Sciences, 2021

33557041 (PubMed )
Supplement: ijms-22-01549-s001.zip › Suppl_Files › Suppl_Table1_Patient_1_Variants.xlsx › Sheet1

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
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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."