Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
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Eur J Hum Genet. 2016 Mar;24(3):408-14. doi: 10.1038/ejhg.2015.119. Epub 2015 Jun 10.
Eur J Hum Genet. 2016.
PMID: 26059841
Free PMC article.