| Title : Genotype-phenotype spectrum and correlation of PHARC Syndrome due to pathogenic ABHD12 variants - Long_2024_BMC.Med.Genomics_17_203 |
| Author(s) : Long X , Xiong W , Wang X , Geng J , Zhong M , Huang Y , Liu M , Bu F , Cheng J , Lu Y , Yuan H |
| Ref : BMC Med Genomics , 17 :203 , 2024 |
| Abstract : |
| PubMedSearch : Long_2024_BMC.Med.Genomics_17_203 |
| PubMedID: 39123271 |
| Gene_locus related to this paper: human-ABHD12 |