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Year | Number of Results |
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2012 | 1 |
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PubMed (cited) for id: 605593
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Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.
Clin Genet. 2014 Sep;86(3):246-51. doi: 10.1111/cge.12259. Epub 2013 Sep 12.
Clin Genet. 2014.
PMID: 24003905
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.
Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D.
Czeschik JC, et al.
Hum Genet. 2013 Aug;132(8):885-98. doi: 10.1007/s00439-013-1295-2. Epub 2013 Apr 9.
Hum Genet. 2013.
PMID: 23568615
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Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.
Bernier FP, Caluseriu O, Ng S, Schwartzentruber J, Buckingham KJ, Innes AM, Jabs EW, Innis JW, Schuette JL, Gorski JL, Byers PH, Andelfinger G, Siu V, Lauzon J, Fernandez BA, McMillin M, Scott RH, Racher H; FORGE Canada Consortium; Majewski J, Nickerson DA, Shendure J, Bamshad MJ, Parboosingh JS.
Bernier FP, et al.
Am J Hum Genet. 2012 May 4;90(5):925-33. doi: 10.1016/j.ajhg.2012.04.004. Epub 2012 Apr 26.
Am J Hum Genet. 2012.
PMID: 22541558
Free PMC article.
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The prespliceosome components SAP 49 and SAP 145 interact in a complex implicated in tethering U2 snRNP to the branch site.
Champion-Arnaud P, Reed R.
Champion-Arnaud P, et al.
Genes Dev. 1994 Aug 15;8(16):1974-83. doi: 10.1101/gad.8.16.1974.
Genes Dev. 1994.
PMID: 7958871
Free article.
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