Varaico: Literature-Extracted Genetic Variants

Gene:WDR19
Variant:p.G495C
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WDR19

NM_025132.4:p.G495C

Associated Papers

Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure.

Shlomovitz O et al.

Kidney International Reports, 2025

41141533 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

Tang X et al.

Heliyon, 2024

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

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

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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."