Varaico: Literature-Extracted Genetic Variants

Gene:IFT140
Variant:p.L469fs
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IFT140

NM_014714.4:p.L469fs

Associated Papers

Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.

Clark D et al.

American Journal of Medical Genetics. Part A, 2024

The Clinical Utility of Genetic Testing in the Diagnosis and Management of Adults with Chronic Kidney Disease.

Dahl NK et al.

Journal of the American Society of Nephrology : Jasn, 2023

37794564 (PubMed )
Supplement: jasn-34-2039-s001.pdf
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