載入...
A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly
Defective glycosylphosphatidylinositol (GPI)‐anchor biogenesis can cause a spectrum of predominantly neurological problems. For eight genes critical to this biological process, disease associations are not yet reported. Scanning exomes from 7,833 parent–child trios and 1,792 singletons from the DDD...
Na minha lista:
| 發表在: | Hum Mutat |
|---|---|
| Main Authors: | , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2018
|
| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6001798/ https://ncbi.nlm.nih.gov/pubmed/29573052 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23420 |
| 標簽: |
添加標簽
沒有標簽, 成為第一個標記此記錄!
|