Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.R633Q
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SPTBN2

NM_006946.4:p.R633Q

Associated Papers

Kv3.3 Expression Enhanced by a Novel Variant in the Kozak Sequence of KCNC3.

Reis MC et al.

International Journal of Molecular Sciences, 2024

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Chow YP et al.

Orphanet Journal of Rare Diseases, 2017

28222800 (PubMed )
Supplement: 13023_2017_575_MOESM3_ESM.xlsx › Table_S2
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