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1998 1
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2022 2
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PubMed for id: 118572613

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Page 1
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.
Cuinat S, Nizon M, Isidor B, Stegmann A, van Jaarsveld RH, van Gassen KL, van der Smagt JJ, Volker-Touw CML, Holwerda SJB, Terhal PA, Schuhmann S, Vasileiou G, Khalifa M, Nugud AA, Yasaei H, Ousager LB, Brasch-Andersen C, Deb W, Besnard T, Simon MEH, Amsterdam KH, Verbeek NE, Matalon D, Dykzeul N, White S, Spiteri E, Devriendt K, Boogaerts A, Willemsen M, Brunner HG, Sinnema M, De Vries BBA, Gerkes EH, Pfundt R, Izumi K, Krantz ID, Xu ZL, Murrell JR, Valenzuela I, Cusco I, Rovira-Moreno E, Yang Y, Bizaoui V, Patat O, Faivre L, Tran-Mau-Them F, Vitobello A, Denommé-Pichon AS, Philippe C, Bezieau S, Cogné B. Cuinat S, et al. Genet Med. 2022 Aug;24(8):1774-1780. doi: 10.1016/j.gim.2022.04.011. Epub 2022 May 14. Genet Med. 2022. PMID: 35567594 Free article.
The SRm160/300 splicing coactivator subunits.
Blencowe BJ, Baurén G, Eldridge AG, Issner R, Nickerson JA, Rosonina E, Sharp PA. Blencowe BJ, et al. RNA. 2000 Jan;6(1):111-20. doi: 10.1017/s1355838200991982. RNA. 2000. PMID: 10668804 Free PMC article.
A coactivator of pre-mRNA splicing.
Blencowe BJ, Issner R, Nickerson JA, Sharp PA. Blencowe BJ, et al. Genes Dev. 1998 Apr 1;12(7):996-1009. doi: 10.1101/gad.12.7.996. Genes Dev. 1998. PMID: 9531537 Free PMC article.