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 :
a splice site mutation splice site of intron 9 c.867+5G >A, Intron 9
| Title : Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome - Igelman_2021_Ophthalmic.Genet_42_664 |
| Author(s) : Igelman AD , Ku C , da Palma MM , Georgiou M , Schiff ER , Lam BL , Sankila EM , Ahn J , Pyers L , Vincent A , Ferraz Sallum JM , Zein WM , Oh JK , Maldonado RS , Ryu J , Tsang SH , Gorin MB , Webster AR , Michaelides M , Yang P , Pennesi ME |
| Ref : Ophthalmic Genet , 42 :664 , 2021 |
| Abstract : |
| PubMedSearch : Igelman_2021_Ophthalmic.Genet_42_664 |
| PubMedID: 34223797 |
| Gene_locus related to this paper: human-ABHD12 |