Lanean...
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. However, the guideline did not elaborate on specific co...
Gorde:
| Argitaratua izan da: | Hum Mutat |
|---|---|
| Egile Nagusiak: | , , , , , , |
| Formatua: | Artigo |
| Hizkuntza: | Inglês |
| Argitaratua: |
2018
|
| Gaiak: | |
| Sarrera elektronikoa: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6185798/ https://ncbi.nlm.nih.gov/pubmed/30192042 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23626 |
| Etiketak: |
Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!
|