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. 2018 Dec 20;104(1):164–178. doi: 10.1016/j.ajhg.2018.11.007

Figure 3.

Figure 3

Splicing Variants Analyses in Individuals 8 and 4

(A) PCR amplification of cDNA from individual 8 at exons 18 to 20 reveals deletion of exon 19 (amino acids 590–611) due to splicing variant c.1833+1G>T in SMARCC2 (GenBank: NM_003075).

(B) SMARCC2 gene expression was quantified by qRT-PCR from lymphoblastoid cell lines (LCLs) for individuals 4 and 15 and an unrelated control subject, in triplicates. SMARCC2 expression was normalized to GAPDH, and results are represented as relative expression normalized to the control. Error bars represent SEM (standard error of the mean) and significance was assessed with bilateral unpaired Student’s t tests.