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| Title : Association between Polymorphism rs61876744 in PNPLA2 Gene and Keratoconus in a Saudi Cohort - Kondkar_2023_Genes.(Basel)_14_ |
| Author(s) : Kondkar AA , Azad TA , Sultan T , Khatlani T , Alshehri AA , Lobo GP , Kalantan H , Al-Obeidan SA , Al-Muammar AM |
| Ref : Genes (Basel) , 14 : , 2023 |
| Abstract : Kondkar_2023_Genes.(Basel)_14_ |
| ESTHER : Kondkar_2023_Genes.(Basel)_14_ |
| PubMedSearch : Kondkar_2023_Genes.(Basel)_14_ |
| PubMedID: 38136930 |
| Title : ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies - Lemire_2021_Am.J.Hum.Genet__ |
| Author(s) : Lemire G , Ito YA , Marshall AE , Chrestian N , Stanley V , Brady L , Tarnopolsky M , Curry CJ , Hartley T , Mears W , Derksen A , Rioux N , Laflamme N , Hutchison HT , Pais LS , Zaki MS , Sultan T , Dane AD , Gleeson JG , Vaz FM , Kernohan KD , Bernard G , Boycott KM |
| Ref : American Journal of Human Genetics , : , 2021 |
| Abstract : Lemire_2021_Am.J.Hum.Genet__ |
| ESTHER : Lemire_2021_Am.J.Hum.Genet__ |
| PubMedSearch : Lemire_2021_Am.J.Hum.Genet__ |
| PubMedID: 34587489 |
| Gene_locus related to this paper: human-ABHD16A |