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@article{paloneva2002-12080485,
  author  = {Paloneva, J. and Manninen, T. and Christman, G. and Hovanes, K. and Mandelin, J. and Adolfsson, R. and Bianchin, M. and Bird, T. and others},
  title   = {{Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype}},
  journal = {American journal of human genetics},
  year    = {2002},
  doi     = {10.1086/342259},
  pmid    = {12080485},
  url     = {https://doi.org/10.1086/342259}
}