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
Combined clinical, structural and cellular studies discriminate pathogenic and benign TRPV4 variants.
Berth SH et al.
Brain : a Journal of Neurology, 2025
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