HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human Mutation - Tập 37 Số 6 - Trang 564-569 - 2016
Johan T. den Dunnen1, Raymond Dalgleish2, Donna Maglott3, Reece K. Hart4, Marc S. Greenblatt5, Jean McGowan‐Jordan6, Anne‐Françoise Roux7, Tim D. Smith8, Stylianos E. Antonarakis9, Peter E.M. Taschner10
1Human Genetics & Clinical Genetics; Leiden University Medical Center; Leiden Nederland
2Department of Genetics, University of Leicester, Leicester, United Kingdom
3National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland
4Invitae; Inc; San Francisco California
5University of Vermont College of Medicine, Burlington, Vermont
6Children's Hospital of Eastern Ontario and University of Ottawa; Ottawa Ontario Canada
7Laboratoire de Génétique Moléculaire; CHRU Montpellier; Montpellier France
8Human Variome Project International Coordinating Office; Melbourne Australia
9Department of Genetic Medicine; University of Geneva Medical School; Geneva Switzerland
10Generade Centre of Expertise Genomics and University of Applied Sciences Leiden; Leiden The Netherlands

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Tài liệu tham khảo

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