High-resolution human core-exome sequencing reveals a reduced penetrance of CFH and CFHR5 mutations in familial macular degeneration

Published in Human Genetics, 2008

Recommended citation: Wang, K., Li, M., Hakonarson, H., Leipzig, J., & Bucan, M. (2008). ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Research, 38(16), e164. https://link.springer.com/article/10.1007/s00439-008-0582-9