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This alternative transcript results from a skipping of exon 6.
The B6 SSS event found within the Gabra2 gene is supported with read coverage of 6 and results in a skipping of an exon.
Twenty clones from the patient were sequenced to verify the inserts, and 5 of them showed truncated inserts with a skipping of exon 19– 4(e)).
LMNA-linked heterozygous RD mutations cause a skipping of exon 11 and lead to a deletion of 90 amino acids [ 7].
Surprisingly, sequence analysis of this cDNA region in our immortalized cell lines revealed a deletion of the last 121 nucleotides of exon 33 instead of a skipping of exon 34 (or a portion of exon 34), as expected.
Similar(54)
The duplication of exon 2 is a more challenging error to correct because a complete skipping of exon 2 leads to an out-of-frame transcript.
All of them showed an increased exon inclusion (SLC44A2) or a reduced exon skipping (of the minor isoform) upon hnRNP H/F knockdown (p < 0.001).
These findings may indicate a correlation between skipping of these exons and PUF60 levels in brain.
Our experiments also reveal previously unknown splicing isoforms, Casp-8x and Casp-9x, as a result of skipping of exons upstream of their In100-containing introns (Figure 6).
The splice-site mutation in family 2 is predicted to cause an in-frame skipping of exon 8.
The 216-aa truncation in mouse Cpeb3 is derived from an intra-exon skipping of exon 4 (Fig. 3A).
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