Associated Papers
Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.
Varela D et al.
Molecular Genetics and Genomics : Mgg, 2021
Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
Jhang WK et al.
Cardiology in the Young, 2015
Novel exons in the tbx5 gene locus generate protein isoforms with distinct expression domains and function.
Yamak A et al.
The Journal of Biological Chemistry, 2015
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