Found: 4
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Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.
- Published in:
- Journal of Personalized Medicine, 2023, v. 13, n. 3, p. 520, doi. 10.3390/jpm13030520
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- Publication type:
- Article
Targeted RNAseq Improves Clinical Diagnosis of Very Early-Onset Pediatric Immune Dysregulation.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 6, p. 919, doi. 10.3390/jpm12060919
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- Publication type:
- Article
Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion.
- Published in:
- 2019
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- Publication type:
- journal article
Altered splicing associated with the pathology of inflammatory bowel disease.
- Published in:
- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00347-y
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- Publication type:
- Article