Associated Papers
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 › Sheet1
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
31783775 (PubMed )
Supplement: 13073_2019_683_MOESM2_ESM.xlsx › Table_S5_Hearing_Loss_B
Molecular analysis of human solute carrier SLC26 anion transporter disease-causing mutations using 3-dimensional homology modeling.
Rapp C et al.
Biochimica Et Biophysica Acta. Biomembranes, 2017
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
Sakuma N et al.
Journal of Human Genetics, 2016
Identification of novel functional null allele of SLC26A4 associated with enlarged vestibular aqueduct and its possible implication.
Jang JH et al.
Audiology & Neuro-otology, 2014
Novel mutations of SLC26A4 in Chinese patients with nonsyndromic hearing loss.
Yao G et al.
Acta Oto-laryngologica, 2013
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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