数据链接：
官方服务：
资源简介：
List of Genes causing Autosomal Recessive Intellectual Disability
应用场景：
创建时间：
2019-12-13
相关数据集
50_ID_WGS_CG_DESC_BvB42_F - 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,
NIAID Data Ecosystem90
Detection and characterizing CNVs identified by tiling resolution BAC array CGH.. Homo sapiens
In this study 405 patients with unexplained mental retardation and 89 unaffected parents were analyzed for DNA copy-number changes using a tiling-resolution genomewide microarray containing 32,447 BAC
NIAID Data Ecosystem60
Data.xlsxVariantes en pacientes con discapacidad intelectual
Este archivo contiene datos fenotípicos y variantes genéticas encontradas en un grupo de pacientes con discapacidad intelectual. Incluye los genes afectados y el tipo de variante identificada
Figshare2024-11-14 更新50
A Point Mutation in the RNA Recognition Motif of CSTF2 Associated with Intellectual Disability in Humans Causes Defects in 3′ End Processing
This SuperSeries is composed of the SubSeries listed below. Refer to individual Series
NIAID Data Ecosystem70
50_ID_WGS_CG_DESC_BvB21_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,
NIAID Data Ecosystem60
