官方服务：
资源简介：
Mapping genetic modifiers of ARPKD
应用场景：
创建时间：
2015-06-06
相关数据集
Observed versus expected likelihood of Glycine substitutions in the COL4A5 , COL4A3 and COL4A4 genes in Alport syndrome and Thin basement membrane nephropathy.
Observed number from the LOVD databases; expected number derived from data for collagen I [20].
NIAID Data Ecosystem40
Genotypes and phenotypes of 22 SRNS patients with disease-causing variants.
Genotypes and phenotypes of 22 SRNS patients with disease-causing variants.
Figshare2024-12-03 更新20
Alport syndrome in Romani. Alport syndrome in Romani
Introduction: Romani people have a high prevalence of kidney failure. This study examined a Romani cohort for pathogenic variants in the COL4A3, COL4A4, and COL4A5 genes which are affected in Alport s
NIAID Data Ecosystem10
Table_Nephropathies_Lifetime risk_Raw data excluded variants.xlsx
Raw data to the paper " Lifetime risk of autosomal recessive kidney diseases calculated from genetic databases". All excluded variants, their allele frequencies as listed in our in-house and gnomAD da
Figshare2024-11-14 更新30
Supplementary Material for: Detection of a Splice Site Variant in a Patient with Glomerulopathy and Fibronectin Deposits
Background/Aims: Glomerulopathy with fibronectin deposits (GFND; OMIM: 601894) is a very rare inherited kidney disease caused by pathogenic variants in the FN1 gene. Only 9 exonic pathogenic variants
NIAID Data Ecosystem20
