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Year | Number of Results |
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2000 | 1 |
2001 | 1 |
2003 | 1 |
2024 | 0 |
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Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.
Hum Mutat. 2000;15(6):541-55. doi: 10.1002/1098-1004(200006)15:6<541::AID-HUMU6>3.0.CO;2-N.
Hum Mutat. 2000.
PMID: 10862084
A mechanism for exon skipping caused by nonsense or missense mutations in BRCA1 and other genes.
Liu HX, Cartegni L, Zhang MQ, Krainer AR.
Liu HX, et al.
Nat Genet. 2001 Jan;27(1):55-8. doi: 10.1038/83762.
Nat Genet. 2001.
PMID: 11137998
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NF1 exon 7 skipping and sequence alterations in exonic splice enhancers (ESEs) in a neurofibromatosis 1 patient.
Colapietro P, Gervasini C, Natacci F, Rossi L, Riva P, Larizza L.
Colapietro P, et al.
Hum Genet. 2003 Nov;113(6):551-4. doi: 10.1007/s00439-003-1009-2. Epub 2003 Sep 6.
Hum Genet. 2003.
PMID: 13680360
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