Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.V583I
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ANO5

NM_213599.3:p.V583I

Associated Papers

[Familial florid cemento-osseous dysplasia with ANO5 mutation: a case report].

Zhang XR et al.

Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2026

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.

Lorenzoni PJ et al.

Arquivos De Neuro-psiquiatria, 2023

Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.

Gao J et al.

International Journal of Molecular Sciences, 2020

32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Özyilmaz B et al.

Annals of Human Genetics, 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
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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."