Practice Guidelines for the Evaluation of Pathogenicity and the Reporting of Sequence Variants in Clinical Molecular Genetics
نویسندگان
چکیده
1. West Midlands Regional Genetics Laboratory, Birmingham Women's NHS Foundation Trust, Mindelsohn Way, Edgbaston, Birmingham, B15 2TG, United Kingdom. 2. Kennedy-Galton Centre (NW Thames) Regional Genetics Centre, Level 8V, Northwick Park & St Mark’s Hospitals, Watford Road, Harrow, HA1 3UJ, United Kingdom. 3. Northern Genetics Service, Institute of Human Genetics, Central Parkway, Newcastle-upon-Tyne, NE1 3BZ, United Kingdom. 4. Dept of Human Genetics, Radboud University Nijmegen Medical Centre, PO box 9101, 6500 HB Nijmegen, The Netherlands 5. Dept of Clinical Genetics, VU University Medical Center, van der Boechorststraat 7, 1081 BT Amsterdam, The Netherlands 6. National Genetics Reference Laboratory (Manchester), Dept of Medical Genetics, Saint Mary’s Hospital, Hathersage Road, Manchester, M13 OJH, United Kingdom. 7. South East Scotland Genetic Service, David Brock Building, Western General Hospital, Crewe Road, Edinburgh, EH4 2XU 8. East Anglian Medical Genetics Service, Genetics Laboratories, Addenbrooke’s Hospital, Cambridge, CB2 0QQ 9. UK NEQAS for Molecular Genetics, UK NEQAS [Edinburgh], Department of Laboratory Medicine, Royal Infirmary of Edinburgh, Edinburgh, EH16 4SA
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تاریخ انتشار 2013