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A kinase-deficient NTRK2 splice variant predominates in glioma and amplifies several oncogenic signaling pathways.
Nat Commun. 2020 Jun 12;11(1):2977. doi: 10.1038/s41467-020-16786-5.
Nat Commun. 2020.
PMID: 32532995
Free PMC article.
Antisense Oligonucleotide Mediated Splice Correction of a Deep Intronic Mutation in OPA1.
Bonifert T, Gonzalez Menendez I, Battke F, Theurer Y, Synofzik M, Schöls L, Wissinger B.
Bonifert T, et al.
Mol Ther Nucleic Acids. 2016 Nov 22;5(11):e390. doi: 10.1038/mtna.2016.93.
Mol Ther Nucleic Acids. 2016.
PMID: 27874857
Free PMC article.
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Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Bonifert T, Karle KN, Tonagel F, Batra M, Wilhelm C, Theurer Y, Schoenfeld C, Kluba T, Kamenisch Y, Carelli V, Wolf J, Gonzalez MA, Speziani F, Schüle R, Züchner S, Schöls L, Wissinger B, Synofzik M.
Bonifert T, et al.
Brain. 2014 Aug;137(Pt 8):2164-77. doi: 10.1093/brain/awu165. Epub 2014 Jun 25.
Brain. 2014.
PMID: 24970096
Free PMC article.
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