Potential pathogenic mutations detected in 10 of the 47 families.
收藏数据链接：
官方服务：
资源简介：
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
