Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.P1050L
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CRB2

NM_173689.7:p.P1050L

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_
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