Varaico: Literature-Extracted Genetic Variants

Gene:WDR19
Variant:p.E534*
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WDR19

NM_025132.4:p.E534*

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

Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.

Daoud H et al.

Cmaj : Canadian Medical Association Journal = Journal De L'association Medicale Canadienne, 2016

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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."