Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.R605C
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CRB2

NM_173689.7:p.R605C

Associated Papers

Expanded CRB2-related disease phenotype: multisystem involvement and post-transplant complications in monozygotic twins.

Plonsky Toder M et al.

Pediatric Nephrology (berlin, Germany), 2025

Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.

Feng Y et al.

Orphanet Journal of Rare Diseases, 2024

39363361 (PubMed )
Supplement: 13023_2024_3379_MOESM1_ESM.pdf

Loss of surface transport is a main cellular pathomechanism of CRB2 variants causing podocytopathies.

Möller-Kerutt A et al.

Life Science Alliance, 2023

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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."