Associated Papers
The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.
Usami SI et al.
Human Genetics, 2022
34599366 (PubMed )
Supplement: 439_2021_2371_MOESM2_ESM.xlsx › SuppleTable2_20210811_final
De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.
Dawidziuk M et al.
International Journal of Molecular Sciences, 2022
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
Sorrentino U et al.
Audiology Research, 2021
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
Morgan A et al.
Frontiers in Genetics, 2018
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
Feng JJ et al.
Neuromuscular Disorders : Nmd, 2009
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.
Ilkovski B et al.
Human Molecular Genetics, 2004
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