| Title : PREPL Deficiency: A Homozygous Splice Site PREPL Mutation in a Patient With Congenital Myasthenic Syndrome and Absence of Ovaries and Hypoplasia of Uterus - Yang_2020_Front.Genet_11_198 |
| Author(s) : Yang Q , Hua R , Qian J , Yi S , Shen F , Zhang Q , Li M , Luo J , Fan X |
| Ref : Front Genet , 11 :198 , 2020 |
| Abstract : Yang_2020_Front.Genet_11_198 |
| ESTHER : Yang_2020_Front.Genet_11_198 |
| PubMedSearch : Yang_2020_Front.Genet_11_198 |
| PubMedID: 32218803 |
| Gene_locus related to this paper: human-PREPL |