| Title : Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome - Snanoudj_2019_Mol.Genet.Genomic.Med_7_e815 |
| Author(s) : Snanoudj S , Mordel P , Dupas Q , Schanen C , Arion A , Gerard M , Read MH , Nait Rabah D , Goux D , Chapon F , Jokic M , Allouche S |
| Ref : Mol Genet Genomic Med , 7 :e815 , 2019 |
| Abstract : |
| PubMedSearch : Snanoudj_2019_Mol.Genet.Genomic.Med_7_e815 |
| PubMedID: 31251474 |
| Gene_locus related to this paper: human-SERAC1 |