| Title : Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12 - Daneshi_2023_BMC.Med.Genomics_16_235 |
| Author(s) : Daneshi A , Garshasbi M , Farhadi M , Falavarjani KG , Vafaee-Shahi M , Almadani N , Zabihi M , Ghalavand MA , Falah M |
| Ref : BMC Med Genomics , 16 :235 , 2023 |
| Abstract : |
| PubMedSearch : Daneshi_2023_BMC.Med.Genomics_16_235 |
| PubMedID: 37803361 |
| Gene_locus related to this paper: human-ABHD12 |