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Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature
Author(s) -
Vuillaume MarieLaure,
Moizard MariePierre,
Rossignol Sylvie,
Cottereau Edouard,
Vonwill Sandrine,
Alessandri JeanLuc,
Busa Tiffany,
Colin Estelle,
Gérard Marion,
Giuliano Fabienne,
Lambert Laetitia,
Lefevre Mathilde,
Kotecha Udhaya,
Nampoothiri Sheela,
Netchine Irène,
Raynaud Martine,
Brioude Frédéric,
Toutain Annick
Publication year - 2018
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.23612
Subject(s) - exon , genetics , biology , sequence (biology) , table (database) , gene , mutation , genealogy , history , computer science , data mining