Associated Papers
Recessive genetic contribution to congenital heart disease in 5,424 probands.
Dong W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs
Candidate Genetic Modifiers in Alport Syndrome: A Case Series.
Lujinschi ȘN et al.
Life (basel, Switzerland), 2025
40003707 (PubMed )
Supplement: life-15-00298-s001.zip › life-3339776-supplementary.pdf
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_
Select a paper to view details