Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss
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- Andrea M. Oza
- Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
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- Marina T. DiStefano
- Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
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- Sarah E. Hemphill
- Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
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- Brandon J. Cushman
- Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
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- Andrew R. Grant
- Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
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- Rebecca K. Siegert
- Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
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- Jun Shen
- Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
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- Alex Chapin
- ARUP Laboratories Salt Lake City Utah
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- Nicole J. Boczek
- Department of Laboratory Medicine and PathologyMayo Clinic Rochester Minnesota
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- Lisa A. Schimmenti
- Department of Otorhinolaryngology, Clinical Genomics and Biochemistry and Molecular BiologyMayo Clinic Rochester Minnesota
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- Jaclyn B. Murry
- Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
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- Linda Hasadsri
- Department of Laboratory Medicine and PathologyMayo Clinic Rochester Minnesota
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- Kiyomitsu Nara
- Division of Hearing and Balance Research, National Institute of Sensory OrgansNational Hospital Organization Tokyo Medical Center Tokyo Japan
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- Margaret Kenna
- Department of Otolaryngology and Communication EnhancementBoston Children's Hospital Boston Massachusetts
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- Kevin T. Booth
- Molecular Otolaryngology and Renal Research Laboratories, Department of OtolaryngologyUniversity of Iowa Hospital and Clinics Iowa City Iowa
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- Hela Azaiez
- Molecular Otolaryngology and Renal Research Laboratories, Department of OtolaryngologyUniversity of Iowa Hospital and Clinics Iowa City Iowa
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- Andrew Griffith
- Audiology Unit, National Institute on Deafness and Other Communication Disorders (NIDCD)NIH Bethesda Maryland
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- Karen B. Avraham
- Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol School of NeuroscienceTel Aviv University Tel Aviv Israel
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- Hannie Kremer
- Department of Otorhinolaryngology and Department of Human Genetics, Donders Institute for Brain, Cognition and BehaviourRadboud University Medical Center Nijmegen The Netherlands
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- Heidi L. Rehm
- Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
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- Sami S. Amr
- Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine Cambridge Massachusetts
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- Ahmad N. Abou Tayoun
- The Children's Hospital of Philadelphia Philadelphia Pennsylvania
Journal
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- Human Mutation
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Human Mutation 39 (11), 1593-1613, 2018-10-11
Wiley
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Details 詳細情報について
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- CRID
- 1360004230133193088
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- ISSN
- 10981004
- 10597794
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- Data Source
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- Crossref
- KAKEN