Replication Data for: The Genetics of Intellectual Disability
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资源简介：
Table 3: List of Autosomal Dominant Genes in Omim and PubMed DataBase
应用场景：
创建时间：
2019-12-13
相关数据集
50_ID_WGS_CG_DESC_BvB40_M - samples
50 trios were whole genome sequenced with Complete Genomics to a depth of 80x. For each trio the child was affected with severe ID, and the parents were unaffected. All trios were negative for array,
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Additional file 3: of Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability
CASAVA human reference sequence (hg19) coverage summary of whole genome library. (XLSX 51 kb)
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Replication Data for: The Genetics of Intellectual Disability Review Tables.
Table 1: Estimated total number of genes inovolved in Intellectual Disability Genes from Literature search and from genome England Database
Harvard Dataverse2019-12-13 更新20
Whole exome sequencing of intellectual disability patient
In this report, we used whole exome sequencing to identify a novel de novo heterozygous NSD2 truncating variant in a 7-year-old Chinese girl with mild WHS features, including failure to thrive, facial
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Clinical and molecular features of 15 probands with intellectual disability screened with high-resolution CMA technology in Goás (Brazil).
* SS = Short Stature; GDD = Global Developmental Delay; MS = Multiple Stigmas, MCA = Multiple Congential Anomalies, ALS = Autism Like Symptoms; BD = Behavior Disorders; Disturbance of brain electrica
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