Summary of exonic and promoter variants identified in autism.
收藏NIAID Data Ecosystem2026-03-06 收录
下载链接：
https://figshare.com/articles/dataset/_Summary_of_exonic_and_promoter_variants_identified_in_autism_/577198
下载链接
链接失效反馈官方服务：
资源简介：
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：
2009-02-26
