@misc{indiciaefcece443bb5c,
  title = {A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2.},
  author = {Justyna Paprocka and Adrianna \&\#x15a;ci\&\#x15b;licka-Stelmach and Dominika Bieczek and Laurent Servais},
  year = {2026},
  doi = {10.1016/j.nmd.2026.106462},
  url = {https://pubmed.ncbi.nlm.nih.gov/42526191/},
  note = {Source identifier: 42526191}
}