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资源简介：
Gene panel for intellectual disability containing 849 genes
应用场景：
创建时间：
2023-01-11
相关数据集
Datset relate to article "3-METHYLGLUTACONIC ACIDURIA TYPE I: A RARE CAUSE OF LATE-ONSET LEUKOENCEPHALOPATHY"
gene panel data of AUH case
NIAID Data Ecosystem130
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
NIAID Data Ecosystem60
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
NIAID Data Ecosystem30
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,
NIAID Data Ecosystem70
VPA genodermatoses_JAAD
Supplementary tables: S1: Overview of the genes included in the panel and their associated OMIM phenotype(s) S2: Demographics, panel results, implications, and secondary/carriership findings S3: Clini
NIAID Data Ecosystem50
