Varaico: Literature-Extracted Genetic Variants

Gene:SLC26A4
Variant:p.L445_Q446insFs
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SLC26A4

NM_000441.2:p.L445_Q446insFs

Associated Papers

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

Campbell C et al.

Human Mutation, 2001

Molecular analysis of the PDS gene in Pendred syndrome.

Coyle B et al.

Human Molecular Genetics, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."