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Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing
- Source :
- American Journal of Human Genetics, 110, 2, pp. 240-250, American Journal of Human Genetics, 110, 240-250
- Publication Year :
- 2023
- Publisher :
- Elsevier BV, 2023.
-
Abstract
- Contains fulltext : 290548.pdf (Publisher’s version ) (Open Access)
- Subjects :
- All institutes and research themes of the Radboud University Medical Center
lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]
Genetics
Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]
Genetics (clinical)
Subjects
Details
- ISSN :
- 00029297
- Volume :
- 110
- Database :
- OpenAIRE
- Journal :
- The American Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....9a4e76ced7c547831e4136f70e7b7e97