Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.S548C
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CRB2

NM_173689.7:p.S548C

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 › de_novo_Cystein_mismatches

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Copy-number_stable
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