LAMB2 novel variant c.2885‐9 C>A affects RNA splicing in a minigene assay
Author:
Affiliation:
1. Department of Pediatrics Peking University First Hospital Beijing China
2. Laboratory of Electron Microscopy Ultrastructural Pathology CenterPeking University First Hospital Beijing China
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1704
Reference22 articles.
1. Screening BRCA1 and BRCA2 unclassified variants for splicing mutations using reverse transcription PCR on patient RNA and an ex vivo assay based on a splicing reporter minigene
2. Ophthalmological Aspects of Pierson Syndrome
3. Variable phenotype of Pierson syndrome
4. Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome
5. Monogenic Causes of Proteinuria in Children
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