Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.R477C
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CRB2

NM_173689.7:p.R477C

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

36549870 (PubMed )
Supplement: LSA-2022-01649_TableS1.xlsx › ClinVar_April_22_2022_

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases.

Novice T et al.

Journal of Clinical Immunology, 2020

31853824 (PubMed )
Supplement: 10875_2019_731_MOESM1_ESM.xlsx › Sheet1
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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."