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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Fig. 1

Schematic representation of the N2A human isoform of titin. Yellow boxes represent the normally spliced exons, the white insertions represent the skipped exons. The pink box, represents all the exons potentially expressed in the PEVK region of the isoform, also known as metatranscript-only exons. The inclusion rate of exon 170 in the N2A human isoforms is 4% [6]

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Acta Neuropathologica Communications

ISSN: 2051-5960

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