Varaico: Literature-Extracted Genetic Variants

Gene:FAN1
Variant:p.Q368*
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FAN1

NM_014967.5:p.Q368*

Associated Papers

Genotype-phenotype characteristics and disease progression of FAN1-related karyomegalic tubulointerstitial nephropathy.

Clince M et al.

Kidney International, 2026

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

33579867 (PubMed )
Supplement: jhd-10-jhd200448-s001.pdf

Case report: a 58 -year -old man with small kidneys and elevated liver enzymes.

Dash J et al.

Bmc Nephrology, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."