@misc{indiciae48743a3f5cc3,
  title = {Human Gene Mutation Database.},
  author = {D N Cooper and M Krawczak},
  year = {1996},
  doi = {10.1007/s004390050272},
  url = {https://pubmed.ncbi.nlm.nih.gov/8882888/},
  note = {Source identifier: 8882888}
}