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. 2014 Apr 1;9(4):e93409. doi: 10.1371/journal.pone.0093409

Figure 2. L1CAM splice site mutation in Patient 1.

Figure 2

(A) IGV snapshot of c.3458-1G>A variant in the L1CAM gene (Chr X:153129005, hg19). (B) Sanger sequencing confirmation of c.3458-1G>A variant (NM_000425.3) (C) Partial cDNA sequence showing the mutant allele with the 5 bp deletion.