Potential pathogenic mutations detected in 10 of the 47 families.
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Note: D = damaging; PD = probably damaging; DSA = donor site abolished.#The variation was found in 1000 Genomes database with the Global minor allele frequency (MAF) of G = 0.001/3 so that the pathogeneity of the variants in this family need to be clarified further.
创建时间：
2015-12-02
