Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. [electronic resource]
- Genetics in medicine : official journal of the American College of Medical Genetics 05 2020
- 945-953 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1530-0366
10.1038/s41436-020-0754-0 doi
Base Sequence Child Child, Preschool Humans Muscular Atrophy, Spinal--diagnosis Survival of Motor Neuron 1 Protein--genetics