Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

Références BibTex

@Article{ACUOOPFACACPC18,
  author       = {Angius, A. and Cossu, S. and Uva, P. and Oppo, M. and Onano, S. and Persico, I. and Fotia, G. and Atzeni, R. and Cuccuru, G. and Asunis, M. and Cucca, F. and Pruna, D. and Crisponi, L.},
  title        = {Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome},
  journal      = {Clinical Genetics},
  month        = {february},
  year         = {2018},
  keywords     = {ngs, exome sequencing, rare disease},
  doi          = {10.1111/cge.13162},
  url          = {https://publications.crs4.it/pubdocs/2018/ACUOOPFACACPC18},
}

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