Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
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- Ahmad N. Abou Tayoun
- The Children's Hospital of Philadelphia Philadelphia Pennsylvania
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- Tina Pesaran
- Ambry Genetics Aliso Viejo California
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- Marina T. DiStefano
- Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts
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- Andrea Oza
- Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts
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- Heidi L. Rehm
- Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts
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- Leslie G. Biesecker
- Medical Genomics and Metabolic Genetics BranchNational Human Genome Research InstituteNational Institutes of Health Bethesda Maryland
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- Steven M. Harrison
- Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts
収録刊行物
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- Human Mutation
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Human Mutation 39 (11), 1517-1524, 2018-09-07
Wiley