Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.P1064S
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CRB2

NM_173689.7:p.P1064S

Associated Papers

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

Möller-Kerutt A et al.

Life Science Alliance, 2023

Six new cases of CRB2-related syndrome and a review of clinical findings in 28 reported patients.

Adutwum M et al.

Clinical Genetics, 2023

Crumbs homolog 2 mutation in two siblings with steroid-resistant nephrotic syndrome: Two case reports.

Lu J et al.

World Journal of Clinical Cases, 2021

A case report of CRB2 mutation identified in a Chinese boy with focal segmental glomerulosclerosis.

Fan J et al.

Medicine, 2018

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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."