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whole-exome sequencing in patient with short stature
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创建时间：
2021-08-13
相关数据集
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
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
Additional file 3: Table S3. of Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability
Variants of Unknown Clinical Significance (Class 3)Â (XLSX 33Â kb)
Figshare2016-12-15 更新10
Additional file 4: of Targeted next-generation sequencing identification of mutations in patients with disorders of sex development
Sequencing quality statistics of all samples. (XLSX 14.4 kb)
NIAID Data Ecosystem40
Novel ZBTB20 variant in a patient with Primrose syndrome
Primrose syndrome is a rare autosomal dominant syndrome caused by heterozygous variants in ZBTB20. Clinical characteristics include intellectual disability, macrocephaly, ocular abnormalities, hearing
DataCite Commons2025-09-27 更新10
