Associated Papers
TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease.
Chen W et al.
Human Mutation, 2020
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.
Otomo N et al.
Journal of Medical Genetics, 2019
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