Varaico: Literature-Extracted Genetic Variants

Gene:SLC17A8
Variant:p.K519E
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SLC17A8

NM_139319.3:p.K519E

Associated Papers

Targeted gene sequencing and hearing follow-up in 7501 newborns reveals an improved strategy for newborn hearing screening.

Hao C et al.

European Journal of Human Genetics : Ejhg, 2025

Systematic genetic assessment of hearing loss using whole-genome sequencing identifies pathogenic variants.

Kim JA et al.

Experimental & Molecular Medicine, 2025

Targeted next-generation sequencing of deaf patients from Southwestern China.

Li Y et al.

Molecular Genetics & Genomic Medicine, 2021

Phenotypic characterization of hereditary hearing impairment linked to DFNA25.

Thirlwall AS et al.

Archives of Otolaryngology--head & Neck Surgery, 2003

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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."