Article
WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson's Disease.
Scientific reports - 3 Jun 2020
Kumar Mukesh, Gaharwar Utkarsh, Paul Sangita, Poojary Mukta, Pandhare Kavita, Scaria Vinod, Bk Binukumar
Abstract excerpt
Wilson disease (WD) is one of the most prevalent genetic diseases with an estimated global carrier frequency of 1 in 90 and a prevalence of 1 in 30,000. The disease owes its genesis to Kinnier Wilson who described the disease, and is caused by accumulation of Copper (Cu) in various organs including the liver, central nervous system, cornea, kidney, joints and cardiac muscle which contribute to the characteristic...
Topics
- Alleles
- Copper
- Copper-Transporting ATPases
- Databases, Genetic
- Genetic Testing
- Genetic Variation
- Genomics
- Hepatolenticular Degeneration
- High-Throughput Nucleotide Sequencing
- Humans
- Mutation