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资源简介：
Exome sequencing for a Chinese girl with KBG syndrome
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创建时间：
2021-02-19
相关数据集
Additional file 9: of Systematic drug screening reveals specific vulnerabilities and co-resistance patterns in endocrine-resistant breast cancer
Point mutations from exome-sequencing. Point mutations, sequencing reads and mutation frequency in tamoxifen-resistant cells (Resistant Reference Reads, Resistant Variant Reads, Resistant Variant Freq
NIAID Data Ecosystem70
Summary of biophysical parameters of LCav3 channel variants containing exons 8b and 25c expressed in HEK-293T cells, with one-way analysis of variance to assess statistical significance.
n.s. not significant; *p<0.05; **p<0.005; ***p<0.001.
NIAID Data Ecosystem30
Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)
TRIP4 is one of the subunits of the transcriptional coregulator ASC-1, a ribonucleoprotein complex that participates in transcriptional coactivation and RNA processing events. Recessive variants in t
NIAID Data Ecosystem20
Genotypes of SD patients analyzed in this study.
ND: not detectable; NA: not available. Novel mutations are indicated in bold, *RefSeq cDNA:NM_000521. For cDNA numbering +1 corresponds to the A of the first ATG translation initiation codon. RefSeq p
NIAID Data Ecosystem70
dataset related to article: "Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype"
Dataset contains Genetic data in VCF format of an Italian patient with spastic ataxia phenotype
Zenodo2021-09-08 更新20
