Identification of a novel splice site mutation in the <i>SERAC1</i> gene responsible for the MEGDHEL syndrome

Sarah Snanoudj(Université de Caen Normandie), Stéphane Allouche(Centre Hospitalier Universitaire de Caen Normandie)
Molecular Genetics & Genomic Medicine
June 28, 2019
10.1002/mgg3.815
Cited by 8

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