Varaico: Literature-Extracted Genetic Variants

Gene:RPS6KA3
Variant:p.A93delFs
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RPS6KA3

NM_004586.3:p.A93delFs

Associated Papers

Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.

Palos F et al.

The Journal of Clinical Endocrinology and Metabolism, 2008

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

Campbell C et al.

Human Mutation, 2001

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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."