Title : A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review - Li_2019_Gene_704_113 |
Author(s) : Li T , Feng Y , Liu Y , He C , Liu J , Chen H , Deng Y , Li M , Li W , Song J , Niu Z , Sang S , Wen J , Men M , Chen X , Li J , Liu X , Ling J |
Ref : Gene , 704 :113 , 2019 |
Abstract : |
PubMedSearch : Li_2019_Gene_704_113 |
PubMedID: 30974196 |
Gene_locus related to this paper: human-ABHD12 |