Varaico: Literature-Extracted Genetic Variants

Gene:FAN1
Variant:p.L925delFs
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FAN1

NM_014967.5:p.L925delFs

Associated Papers

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

Clince M et al.

Kidney International, 2026

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3B

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

Karyomegalic Interstitial Nephritis: Cancer Risk Following Transplantation.

Murray SL et al.

Nephron, 2020

Monogenic causes of chronic kidney disease in adults.

Connaughton DM et al.

Kidney International, 2019

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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."