Varaico: Literature-Extracted Genetic Variants

Gene:WDR19
Variant:p.Y1157C
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WDR19

NM_025132.4:p.Y1157C

Associated Papers

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises.

Watson D et al.

American Journal of Medical Genetics. Part A, 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

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis.

Capra AP et al.

Genes, 2023

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