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...
| मुख्य लेखकों: | , , , , , |
|---|---|
| स्वरूप: | लेख |
| भाषा: | English |
| प्रकाशित: |
BMC
2021-06-01
|
| श्रृंखला: | BMC Medical Genomics |
| विषय: | |
| ऑनलाइन पहुंच: | https://doi.org/10.1186/s12920-021-01008-8 |