Varaico: Literature-Extracted Genetic Variants

Gene:ACTG1
Variant:p.Y306D
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ACTG1

NM_001614.5:p.Y306D

Associated Papers

Clinical and genetic characterisation of childhood-onset sensorineural hearing loss reveal associated phenotypes and enrichment of pathogenic founder mutations in the Finnish population.

Kraatari-Tiri M et al.

International Journal of Audiology, 2025

39422539 (PubMed )
Supplement: supplement_1.xlsx › Likely_causative_gene_variants
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