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Splicing in action: assessing disease causing sequence changes.
J Med Genet. 2005 Oct;42(10):737-48. doi: 10.1136/jmg.2004.029538.
J Med Genet. 2005.
PMID: 16199547
Free PMC article.
Review.
Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient.
Fu Y, Zhang JQ, Jiang CL, Wang HY.
Fu Y, et al.
J Dermatol. 2018 Aug;45(8):986-988. doi: 10.1111/1346-8138.14493. Epub 2018 Jun 28.
J Dermatol. 2018.
PMID: 29952103
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Molecular dissection of isolated disease features in mosaic neurofibromatosis type 1.
Maertens O, De Schepper S, Vandesompele J, Brems H, Heyns I, Janssens S, Speleman F, Legius E, Messiaen L.
Maertens O, et al.
Am J Hum Genet. 2007 Aug;81(2):243-51. doi: 10.1086/519562. Epub 2007 Jun 20.
Am J Hum Genet. 2007.
PMID: 17668375
Free PMC article.
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