Associated Papers
Assessing the Functional Significance of Novel and Rare Variants of the SLC26A4 Gene Found in Patients with Hearing Loss by Minigene Assay.
Danilchenko VY et al.
International Journal of Molecular Sciences, 2025
Asymmetric pendrin homodimer reveals its molecular mechanism as anion exchanger.
Liu Q et al.
Nature Communications, 2023
37230976 (PubMed )
Supplement: 41467_2023_38303_MOESM3_ESM.xlsx › SLC26A4.gvtable.9
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism.
Albader N et al.
The Journal of Clinical Endocrinology and Metabolism, 2022
Deafness gene variations in a 1120 nonsyndromic hearing loss cohort: molecular epidemiology and deafness mutation spectrum of patients in Japan.
Nishio SY et al.
The Annals of Otology, Rhinology, and Laryngology, 2015
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.
Choi BY et al.
Genetic Testing and Molecular Biomarkers, 2009
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