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Molecular diagnosis for cystic kidney diseases
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2024-05-31
相关数据集
Table2: Genes linked to inherited kidney diseases and their extrarenal manifestations: an OMIM-based exploration of nuclear genes.
Displayed genes were identified using the Genomics England Panel App website (https://panelapp.genomicsengland.co.uk/). Genes identified as being listed in the following panels were used: renal superp
DataCite Commons2024-06-21 更新90
Phenotypic and genotypic analysis of pediatric nephronophthisis patients with different levels of proteinuria
While nephronophthisis (NPHP) classically manifests as mild tubular proteinuria, emerging evidence reports nephrotic-range proteinuria with edema. This study aims to explore the phenotypes and genotyp
Taylor & Francis Group2025-12-16 更新30
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
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
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
