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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2005 | 1 |
2009 | 1 |
2019 | 1 |
2024 | 0 |
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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.
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions.
Cheng A, Zhang M, Okubo M, Omichi K, Saltiel AR.
Cheng A, et al.
Hum Mol Genet. 2009 Jun 1;18(11):2045-52. doi: 10.1093/hmg/ddp128. Epub 2009 Mar 19.
Hum Mol Genet. 2009.
PMID: 19299494
Free PMC article.
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Clinical utility of a targeted next generation sequencing panel in severe and pediatric onset Mendelian diseases.
Isik E, Onay H, Atik T, Canda E, Cogulu O, Coker M, Ozkinay F.
Isik E, et al.
Eur J Med Genet. 2019 Oct;62(10):103725. doi: 10.1016/j.ejmg.2019.103725. Epub 2019 Jul 15.
Eur J Med Genet. 2019.
PMID: 31319225
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