2018
DOI: 10.1016/j.cca.2018.01.025
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Two de novo variations identified by massively parallel sequencing in 13 Chinese families with children diagnosed with autism spectrum disorder

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Cited by 7 publications
(8 citation statements)
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“…Additionally, the canonical donor splice site 3′ of c.664 was also found to be repeatedly affected. 17 We show in our study that c.664+1G>T causes skipping of exon 4, producing an in-frame deletion in the SAND domain that results in abnormal transcriptional activity mimicking the effect of other missense variants on DEAF1 protein activity.…”
Section: Discussionmentioning
confidence: 59%
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“…Additionally, the canonical donor splice site 3′ of c.664 was also found to be repeatedly affected. 17 We show in our study that c.664+1G>T causes skipping of exon 4, producing an in-frame deletion in the SAND domain that results in abnormal transcriptional activity mimicking the effect of other missense variants on DEAF1 protein activity.…”
Section: Discussionmentioning
confidence: 59%
“…Moreover, variants have been found recurrently affecting the same residues, namely p.Gly212, p.Leu214, p.Lys216, p.Ile228, p.Arg254, p.Gln264, and p.Ala276 (refs. 1,[12][13][14][15][16][17][18][19][20]. Additionally, the canonical donor splice site 3′ of c.664 was also found to be repeatedly affected.…”
Section: Discussionmentioning
confidence: 94%
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