Varaico: Literature-Extracted Genetic Variants

Gene:ALG5
Variant:p.R79W
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ALG5

NM_013338.5:p.R79W

Associated Papers

Characterization of Monogenic Kidney Disease in Older Patients With CKD.

Elhassan EAE et al.

Kidney International Reports, 2025

40677324 (PubMed )
Supplement: mmc1.pdf

Phenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.

Elhassan EAE et al.

Journal of Nephrology, 2025

A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis.

Elhassan EAE et al.

Kidney International Reports, 2024

Genetic disorders of dolichol synthesis and utilization.

Pieters E et al.

Molecular Genetics and Metabolism, 0

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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."