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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...
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| Publicado no: | Hum Mutat |
|---|---|
| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | 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 |
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