Varaico: Literature-Extracted Genetic Variants

Gene:WDR19
Variant:p.G495R
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WDR19

NM_025132.4:p.G495R

Associated Papers

Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure.

Shlomovitz O et al.

Kidney International Reports, 2025

41141533 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

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

Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.

Tang X et al.

Heliyon, 2024

Stargardt-like Clinical Characteristics and Disease Course Associated with Variants in the WDR19 Gene.

Sajovic J et al.

Genes, 2023

36833218 (PubMed )
Supplement: genes-14-00291-s001.zip › genes-2122455-supplementary.pdf

A novel homozygous mutation in WDR19 induces disorganization of microtubules in sperm flagella and nonsyndromic asthenoteratospermia.

Ni X et al.

Journal of Assisted Reproduction and Genetics, 2020

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Ryan R et al.

Human Molecular Genetics, 2018

Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.

Lee JM et al.

Pediatric Nephrology (berlin, Germany), 2015

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies.

Fehrenbach H et al.

Pediatric Nephrology (berlin, Germany), 2014

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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."