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Whole exome sequencing of family having multiple pregnancy losses due to renal hypodysplasia
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创建时间：
2024-11-15
相关数据集
Sequence chromatogram of the c.865G>A mutation on the COL4A5 gene in the proband and her family members
In family 2, the detected variant in the COL4A5 gene (c.865G>A) of the proband inherited from her mother.
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Supplementary Material for: Effects of N-Acetyl-L-Cysteine on the progression of kidney dysfunction in Acadian variant Fanconi syndrome: a case series
Introduction Acadian variant Fanconi syndrome (AVFS) is an autosomal recessive disease caused by a mutation in the NDUFAF6 gene which results in mitochondrial dysfunction and oxidative damage to the k
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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
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Effect of FN1 mutation on outcomes of fibronectin glomerulopathy in a systematic review and meta-analysis
Supplementary data of fibronectin glomerulopathy located in this site.
NIAID Data Ecosystem60
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 Ecosystem40
