Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.M543fs
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ANO5

NM_213599.3:p.M543fs

Associated Papers

Clinico-genetic spectrum of limb-girdle muscular weakness in Austria: A multicentre cohort study.

Krenn M et al.

European Journal of Neurology, 2022

35239206 (PubMed )
Supplement: ENE-29-1815-s001.xlsx › Supplementary_Table_1

An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.

Juntas Morales R et al.

Genes, 2021

34440373 (PubMed )
Supplement: genes-12-01199-s001.zip › MORALES_et_al.__Supplemental_table_2.pdf

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.

Magri F et al.

Neuromuscular Disorders : Nmd, 2012

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