A missense mutation in SNRPE linked to non-syndromal microcephaly interferes with U snRNP assembly and pre-mRNA splicing.
Chen T, Zhang B, Ziegenhals T, Prusty AB, Frohler S, Grimm C, Hu Y, Schaefke B, Fang L, Zhang M, Kraemer N, Kaindl AM, Fischer U, Chen W
PLoS Genet. 2019 Oct 31;15(10):e1008460. doi: 10.1371/journal.pgen.1008460. eCollection 2019 Oct.
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