Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.S523fs
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SLC26A4

NM_000441.2:p.S523fs

Associated Papers

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 and functional studies of 4 candidate loci in Pendred syndrome and nonsyndromic hearing loss.

Cirello V et al.

Molecular and Cellular Endocrinology, 2012

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