Varaico: Literature-Extracted Genetic Variants

Gene:WDR19
Variant:p.Q228*
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WDR19

NM_025132.4:p.Q228*

Associated Papers

Elucidating Mechanisms of Hypomorphic WDR19-Related Kidney Failure.

Shlomovitz O et al.

Kidney International Reports, 2025

41141533 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Inherited retinal degeneration in Malay and Indian populations of Singapore and Malaysia: a prospective multicentre study.

Sao Su S et al.

Ophthalmic Genetics, 2025

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

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

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Halbritter J et al.

Human Genetics, 2013

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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."