splicing complex

There are multiple molecular mechanisms that can cause genetic disorders such as point mutations, splicing site mutation, insertion/ deletion mutations, gene duplication, complex rearrangements and gene copy number abnormalities.

引起遗传性疾病的分子机制有多种，常见的有点突变、小片段插入/缺失突变、拼接位点突变、外显子缺失/重复突变、基因重复和复杂重排及基因拷贝数异常等。

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