Gene Locus : No gene locus
Mode of mutation : Natural mutant
Disease :
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 :
Heterozygous in one patient with unilateral cataract and retinitis pigmentosa PHARC syndrome
| Title : Unilateral Cataract and Retinitis Pigmentosa in a Patient With Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome: A Case Report - Hernandez-Emanuelli_2024_Cureus_16_e54295 |
| Author(s) : Hernandez-Emanuelli ME , Emanuelli A , Izquierdo N |
| Ref : Cureus , 16 :e54295 , 2024 |
| Abstract : |
| PubMedSearch : Hernandez-Emanuelli_2024_Cureus_16_e54295 |
| PubMedID: 38371430 |
| Gene_locus related to this paper: human-ABHD12 |