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Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can al...
সংরক্ষণ করুন:
| প্রকাশিত: | BMC Med Genet |
|---|---|
| প্রধান লেখক: | , , , , , |
| বিন্যাস: | Artigo |
| ভাষা: | Inglês |
| প্রকাশিত: |
BioMed Central
2017
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| বিষয়গুলি: | |
| অনলাইন ব্যবহার করুন: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5457574/ https://ncbi.nlm.nih.gov/pubmed/28576131 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0425-4 |
| ট্যাগগুলো: |
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