Varaico: Literature-Extracted Genetic Variants

Gene:SOX10
Variant:p.F153F
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SOX10

NM_006941.4:p.F153F

Associated Papers

Two pathogenic mutations located within the 5'-regulatory sequence of the GJB1 gene affecting initiation of transcription and translation.

Kabzińska D et al.

Acta Biochimica Polonica, 2011

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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."