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Detection of gene mutation in a patient with FSGS
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2022-09-13
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Rare inherited kidney diseases: an evolving field in Nephrology
Abstract There are more than 150 different rare genetic kidney diseases. They can be classified according to diagnostic findings as (i) disorders of growth and structure, (ii) glomerular diseases, (ii
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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
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Feature grid of tools for human genome annotation and analysis.
This table shows the comparison of multiple tools and platforms that can be used for doing variant annotation, prioritization and clinical genome analysis.
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Supplementary Material for: Successful Living Kidney Donation from Heterozygous Carrier Parents to Siblings with Coenzyme Q8B Nephropathy: Two Case Series
Introduction: Coenzyme Q8B (COQ8B) nephropathy is an autosomal recessive hereditary disorder caused by primary coenzyme Q10 (CoQ10) deficiency. It manifests as a genetic steroid-resistant nephrotic sy
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