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A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1
- Source :
- Neuromuscular Disorders. 33:161-168
- Publication Year :
- 2023
- Publisher :
- Elsevier BV, 2023.
Details
- ISSN :
- 09608966
- Volume :
- 33
- Database :
- OpenAIRE
- Journal :
- Neuromuscular Disorders
- Accession number :
- edsair.doi...........b436d4fee7e5652fdbc9fe4449964fa1
- Full Text :
- https://doi.org/10.1016/j.nmd.2022.12.011