Unraveling synonymous and deep intronic variants causing aberrant splicing in two genetically undiagnosed epilepsy families

Abstract Background Variants identified through parent-child trio-WES yield up to 28-55% positive diagnostic rate across a variety of Mendelian disorders, there remain numerous patients who do not receive a genetic diagnosis. Studies showed that some aberrant splicing variants, which are either not...

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Main Authors: Qiang Li (Author), Yiting Wang (Author), Yijun Pan (Author), Jia Wang (Author), Weishi Yu (Author), Xiaodong Wang (Author)
Format: Book
Published: BMC, 2021-06-01T00:00:00Z.
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3rd Floor Main Library

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