PMC9911649_01
PMC9911649_02
The proband carried the c.2514_2516delTAG (p.Ser838del) mutation in SETD2 gene. (A), The results of Sanger sequencing on (C)2514_2516delTAG (p.Ser838del) mutation in SETD2 gene in the proband and his family. (B), Conservative analysis at site p. Ser838 in multiple species. (C), Distribution of the variant sites in 16 LLS patients.
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PMC9911649_02_fgene-14-1081391-g001.jpg
F1
Craniocerebral magnetic resonance imaging (MRI) revealed a slightly shorter corpus callosum with a mildly thinner corpus callosum body (Supplementary Figure S1).