p.Val19Glyfs*21 and p.Leu228* variants in the survival of motor neuron 1 trigger nonsense-mediated mRNA decay causing the SMN1 PTC+ transcripts degradation.

Y. Qu,L. Ge,J. Bai,Yan-yan Cao,Yu-wei Jin,Hong Wang,Lan Yang,F. Song

Published 2017 in Mutation research

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