Varaico: Literature-Extracted Genetic Variants

Gene:CS
Variant:p.A145V
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CS

NM_004077.3:p.A145V

Associated Papers

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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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."