1 | GLE1, LCCS1
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| Gle1 functions during mRNA export in an oligomeric complex that is altered in human disease.
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| Folkmann AW, Collier SE, Zhan X, Aditi, Ohi MD, Wente SR.
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| Cell 155(3):582-93. doi: 10.1016/j.cell.2013.09.023. Epub 2013 Oct 24.
2013
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2 | GLE1, LCCS1
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| Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
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| Nousiainen HO, KestilŠ M, PakkasjŠrvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L.
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| Nat Genet 40(2):155-7. Epub 2008 Jan 20. 2008
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3 | LCCS1
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| Assignment of the disease locus for lethal congenital contracture syndrome to a restricted region of chromosome 9q34, by genome scan using five affected individuals.
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| Makela-Bengs P, Jarvinen N, Vuopala K, Suomalainen A, Ignatius J, Sipila M, Herva R, Palotie A, Peltonen L.
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| Am J Hum Genet 63(2):506-16. 1998
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4 | LCCS1
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| The assignment of the lethal congenital contracture syndrome (LCCS) locus to chromosome 9q33-34. (abstr)
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| MŠkelŠ-Bengs P, et al.
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| Am J Hum Genet 61 : A30. 1997
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5 | LCCS1
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| Lethal congenital contracture syndrome (LCCS), a fetal anterior horn cell disease, is not linked to the SMA 5q locus.
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| Vuopala K, Makela-Bengs P, Suomalainen A, Herva R, Leisti J, Peltonen L.
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| J Med Genet 32(1):36-8. 1995
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