Variants perturbing the normal splicing of pre‐mRNA can lead to human diseases. The splice‐altering effect and eventual consequence on gene function was sometimes uncertain and hinders a definitive molecular diagnosis.

中文翻译：

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mRNA 的 RT-PCR 分析揭示了罕见内含子变异在单基因疾病中的剪接改变作用

扰乱前体mRNA正常剪接的变体可导致人类疾病。剪接改变效应和对基因功能的最终后果有时是不确定的，阻碍了明确的分子诊断。