Summary of exonic and promoter variants identified in autism.
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aUTR, untranslated region; Pro, promoter (specific nucleotide position is specified in Table).bPositions based on the following accession numbers: DOC2A (Q14183); HIRIP3 (Q9BW71); MAPK3 (P27361); SEZ6L2 (Q6UXD5); TAOK2 (Q9UL54).cPositions based on the following accession numbers: ALDO, DOC2A, HIRIP3, and PPP4C (AC093512.2); MAZ (AC009133); MAPK3 (AC012645.7); SEZ6L2 (AC120114.2); TAOK2 (AC093512.2).dHet, heterozygous; Hom, homozygous; Hemi, hemizygous.eThis patient harbors a 16p11.2 microdeletion.fBased on UCSC Genome Browser (http://genome.ucsc.edu/), Human March 2006 Assembly.gBased on PolyPhen (http://genetics.bwh.harvard.edu/pph/).kNumber of individuals.
创建时间:
2015-12-02



