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HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
den Dunnen, Johan T; Dalgleish, Raymond; Maglott, Donna R; Hart, Reece K; Greenblatt, Marc S; McGowan-Jordan, Jean; Roux, Anne-Francoise; Smith, Timothy; Antonarakis, Stylianos E; Taschner, Peter E M.
Afiliação
  • den Dunnen JT; Human Genetics & Clinical Genetics, Leiden University Medical Center, Leiden, Nederland.
  • Dalgleish R; Department of Genetics, University of Leicester, Leicester, United Kingdom.
  • Maglott DR; National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland.
  • Hart RK; Invitae, Inc, San Francisco, California.
  • Greenblatt MS; University of Vermont College of Medicine, Burlington, Vermont.
  • McGowan-Jordan J; Children's Hospital of Eastern Ontario and University of Ottawa, Ottawa, Ontario, Canada.
  • Roux AF; Laboratoire de Génétique Moléculaire, CHRU Montpellier, Montpellier, France.
  • Smith T; Human Variome Project International Coordinating Office, Melbourne, Australia.
  • Antonarakis SE; Department of Genetic Medicine, University of Geneva Medical School, Geneva, Switzerland.
  • Taschner PE; Generade Centre of Expertise Genomics and University of Applied Sciences Leiden, Leiden, The Netherlands.
Hum Mutat ; 37(6): 564-9, 2016 06.
Article em En | MEDLINE | ID: mdl-26931183

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Projeto Genoma Humano / Terminologia como Assunto Tipo de estudo: Guideline Limite: Humans Idioma: En Revista: Hum Mutat Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Projeto Genoma Humano / Terminologia como Assunto Tipo de estudo: Guideline Limite: Humans Idioma: En Revista: Hum Mutat Ano de publicação: 2016 Tipo de documento: Article