Gene Locus : human-ABHD12
Mode of mutation : Natural mutant
Disease : PHARC Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
NM_001042472.3:c.601dup, p.(Val201GlyfsTer4)
| 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 |