Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.Q200_L201Splc
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SLC26A4

NM_000441.2:p.Q200_L201Splc

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.

Pera A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

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