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: | , , , , , |
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| Format: | Book |
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BMC,
2021-06-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |