Varaico: Literature-Extracted Genetic Variants

Gene:IFT140
Variant:p.W459*
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IFT140

NM_014714.4:p.W459*

Associated Papers

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Plos Genetics, 2025

40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

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

Genetic disease risks of under-represented founder populations in New York City.

Isshiki M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39399040 (PubMed )
Supplement: media-1.xlsx › TableS2

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

Extensive genic and allelic heterogeneity underlying inherited retinal dystrophies in Mexican patients molecularly analyzed by next-generation sequencing.

Zenteno JC et al.

Molecular Genetics & Genomic Medicine, 2020

Mutations in human IFT140 cause non-syndromic retinal degeneration.

Xu M et al.

Human Genetics, 2015

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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."