Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L597*
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SLC26A4

NM_000441.2:p.L597*

Associated Papers

Correlation of Genotype-Phenotype of Congenital Hypothyroidism Cohort Diagnosed by Newborn Screening: A Long-Term Observational Study.

Su Y et al.

International Journal of Neonatal Screening, 2025

Genetic mutations in patients with nonsyndromic hearing impairment of minority and Han Chinese ethnicities in Qinghai, China.

Duan S et al.

The Journal of International Medical Research, 2021

Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.

Yuan Y et al.

Plos One, 2012

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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."