TY  - RPRT
TI  - A novel ASCC1 splice-site variant broadens the phenotypic spectrum of spinal muscular atrophy with congenital bone fractures type 2.
AU  - Justyna Paprocka
AU  - Adrianna Ściślicka-Stelmach
AU  - Dominika Bieczek
AU  - Laurent Servais
PY  - 2026
DO  - 10.1016/j.nmd.2026.106462
UR  - https://pubmed.ncbi.nlm.nih.gov/42526191/
ID  - 42526191
ER  -