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资源简介：
To reveal a new pathogenic gene for BRA family
应用场景：
创建时间：
2020-12-10
相关数据集
Novel COMP Mutation
We recruited an AD-MED family with 10 affected members and 17 unaffected members. The main radiographic findings were symmetrical changes in the dysplastic acetabulum and femoral heads, irregular cont
Mendeley Data2020-04-17 更新30
Forty-eight rare coding variants shared by affected individuals from at least two families but absent in all the unaffected ones.
The rare variants validated by Sanger sequencing are shown in bold font. The variants excluded by Sanger sequencing or KASP genotyping are underlined. cytoBand: Chromosome Band; AA change: amino acid
Figshare2020-12-23 更新20
Integrated analysis of copy number variation-associated lncRNAs identifies candidates contributing to the etiologies of congenital kidney anomalies
Congenital anomalies of the kidney and urinary tract (CAKUT) are disorders resulting from defects in the development of the kidneys and their outflow tract. Copy number variations (CNVs) have been ide
DataCite Commons2023-07-05 更新50
Investigation of Unilateral kidney agenesis (URA) in rats
Analysis for unilateral kidney agenesis in heterogenous stock rats
NIAID Data Ecosystem30
