Varaico: Literature-Extracted Genetic Variants

Gene:RNF112
Variant:p.G375R
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RNF112

NM_007148.5:p.G375R

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
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