Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.T277I
Back to variants list

ACTG1

NM_001614.5:p.T277I

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

NGS sequencing reveals the cause of hearing loss in a group of Polish patients with an isolated, non-DFNB1 hearing loss.

Niepokój K et al.

Journal of Applied Genetics, 2025

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.

Sorrentino U et al.

Audiology Research, 2021

Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss.

Van Heurck R et al.

Genes, 2021

Mutation screening in non-syndromic hearing loss patients with cochlear implantation by massive parallel sequencing in Taiwan.

Liu WH et al.

Plos One, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."