BRAT1 biallelic variations: phenotypic spectrum and phenotype-genotype correlation from 91 cases
Camille Engel,Stephanie Valence,Geoffroy Delplancq,Reza Maroofian,Paul Kuentz,Christelle Cabrol,Elise Brischoux-Boucher,Vincenzo Salpietro,Laurent Villard,Martine Doco-Fenzy,Sylvie Odent,Deborah Morris-Rosendahl,Maha Zaki,Marion Gerard,Alfredo Brusco,Audrey Putoux,Cathryn Poulton,Christine Coubes,Cyril Mignot,Dalal Bubshait,Dror Kraus,Fowzan Alkuraya,Ingrid Scheffer,Hartmut Engels,Johanna Wagner,Joseph Gleeson,Kerstin Kutsche, Laure Massingham,Laurent Pasquier,Lynette Penney,Maria Roberta Cilio,Marie-Coralie Cornet,Marilena Carmela Di Giacomo,Marlene Rio,Matias Wagner,Pasquale Striano,Rachel Straussberg,Rauan Kaiyrzhanov, Siddarth Srivastava,Valentina Baglioni,Antonio Vitobello,Christelle Rougeot,Enza Maria Valente,Henry Houlden,Joanna Goffeney,Ange-Line Bruel,Amy Schneider, Lionel Vanmaldergem,Lydie Burglen,Juliette Piard EUROPEAN JOURNAL OF HUMAN GENETICS（2023）
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