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Table 3 Mutations in Sox10 binding site in GJB1 promoter causing Charcot-Marie-Tooth disease

From: Establishing and validating regulatory regions for variant annotation and expression analysis

Chromosome Sox10 site start Sox10 site end Variant coordinate Variation
X 70443016 70443033 70443018 C > G
X 70443016 70443033 70443029 T > G
X 70443016 70443033 70443029 T > C
X 70443016 70443033 70443031 G > C
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