Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.M283T
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ACTG1

NM_001614.5:p.M283T

Associated Papers

Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.

Carlson RJ et al.

Jama Otolaryngology-- Head & Neck Surgery, 2023

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

Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.

Cabanillas R et al.

Bmc Medical Genomics, 2018

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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."