Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L288I
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SLC26A4

NM_000441.2:p.L288I

Associated Papers

Pathway-based, reaction-specific annotation of disease variants for elucidation of molecular phenotypes.

Orlic-Milacic M et al.

Biorxiv : the Preprint Server for Biology, 2023

A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss.

Azadegan-Dehkordi F et al.

American Journal of Otolaryngology, 0

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