Associated Papers
Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy.
Clince M et al.
Kidney International, 2026
Heterozygous Variants in a Patient with Karyomegalic Interstitial Nephritis.
Wang H et al.
Nephron, 2023
New familial cases of karyomegalic interstitial nephritis with mutations in the FAN1 gene.
Rejeb I et al.
Bmc Medical Genomics, 2021
FAN1, a DNA Repair Nuclease, as a Modifier of Repeat Expansion Disorders.
Deshmukh AL et al.
Journal of Huntington's Disease, 2021
Karyomegalic Interstitial Nephritis: A Case Report and Review of the Literature.
Isnard P et al.
Medicine, 2016
Crystal structure of human Fanconi-associated nuclease 1.
Yan PX et al.
Protein & Cell, 2015
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
Zhou W et al.
Nature Genetics, 2012
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