Hidden in plain sight: genome reanalysis to identify an intragenic novel variant in the SMN locus in a patient with an undiagnosed lower motor neuron disease


Haliloglu G., Donkervoort S., Weisburd B., Yildiz S. O., Ceylaner S., Pais L., ...More

29th International Congress of the World-Muscle-Society (WMS), Prague, Czech Republic, 8 - 12 October 2024, (Summary Text) identifier

  • Publication Type: Conference Paper / Summary Text
  • Doi Number: 10.1016/j.nmd.2024.07.031
  • City: Prague
  • Country: Czech Republic
  • Hacettepe University Affiliated: Yes