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.sapp.pdf
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.
Choudhary D et al.
Pharmacogenetics and Genomics, 2008
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