Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Molecular Function and Contribution of TBX4 in Development and Disease.
Karolak JA et al.
American Journal of Respiratory and Critical Care Medicine, 2023
Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs.
Szafranski P et al.
American Journal of Medical Genetics. Part A, 2016
TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.
Kerstjens-Frederikse WS et al.
Journal of Medical Genetics, 2013
T-box genes and congenital heart/limb malformations.
Isphording D et al.
Clinical Genetics, 2004
Mutations in the human TBX4 gene cause small patella syndrome.
Bongers EM et al.
American Journal of Human Genetics, 2004
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