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Specifications and validation of the ACMG/AMP criteria for clinical interpretation of sequence variants in collagen genes associated with joint hypermobility

Maria Pia Leone; Silvia Morlino; Grazia Nardella; Riccardo Pracella; Daniela Giachino; Luca Celli; Demetrio Baldo; Licia Turolla; Maria Piccione; Emanuela Salzano; Martina Busè; Patrizia Lastella; Marcella Zollino; Rachele Cantone; Enrico Grosso; Andrea Zonta; Barbara Pasini; Carmelo Piscopo; Ilaria De Maggio; Manuela Priolo; Corrado Mammi; Thomas Foiadelli; Chiara Trabatti; Salvatore Savasta; Achille Iolascon; Alessandro Ferraris; Valentina Lodato; Niccolò Di Giosaffatte; Silvia Majore; Angelo Selicorni; Antonio Petracca; Carmela Fusco; Mauro Celli; Vito Guarnieri; Lucia Micale; Marco Castori
Human Genetics · Vol. 142, Issue 6 · pp. 785-808 · 2023

Abstract

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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2023-06-01
Publication Year2023
Volume142
Issue6
Pages785-808
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-023-02547-z

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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