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
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
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutations.
Borozdin W et al.
Human Mutation, 2006
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