Pathogenic Cryptic Variants Detectable Through Exome Data Reanalysis Significantly Increase the Diagnostic Yield in Joubert Syndrome
Fulvio D’Abrusco,Valentina Serpieri, Cecilia Maria Taccagni,Jessica Garau, Luca Cattaneo, Monica Boggioni,Simone Gana,Roberta Battini,Enrico Bertini,Ginevra Zanni,Eugen Boltshauser,Renato Borgatti,Romina Romaniello,Sabrina Signorini,Vincenzo Leuzzi,Caterina Caputi,Filippo Manti,Stefano D’Arrigo,Arianna De Laurentiis,Claudio Graziano,Johannes R. Lemke,Federica Morelli,Danijela Petković Ramadža,Fabio Sirchia,Elisa Giorgio,Enza Maria Valente European journal of human genetics EJHG（2024）
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