| Title : First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant - Zhang_2020_Mol.Genet.Genomic.Med_8_e1144 |
| Author(s) : Zhang P , Wu B , Lu Y , Ni Q , Liu R , Zhou W , Wang H |
| Ref : Mol Genet Genomic Med , 8 :e1144 , 2020 |
| Abstract : Zhang_2020_Mol.Genet.Genomic.Med_8_e1144 |
| ESTHER : Zhang_2020_Mol.Genet.Genomic.Med_8_e1144 |
| PubMedSearch : Zhang_2020_Mol.Genet.Genomic.Med_8_e1144 |
| PubMedID: 31985178 |
| Gene_locus related to this paper: human-PREPL |
| Gene_locus related to this paper: human-PREPL |
Zhang P, Wu B, Lu Y, Ni Q, Liu R, Zhou W, Wang H (2020)
First maternal uniparental disomy for chromosome 2 with PREPL novel frameshift mutation of congenital myasthenic syndrome 22 in an infant
Mol Genet Genomic Med
8 :e1144
Zhang P, Wu B, Lu Y, Ni Q, Liu R, Zhou W, Wang H (2020)
Mol Genet Genomic Med
8 :e1144