Varaico: Literature-Extracted Genetic Variants

Gene:MESP2
Variant:p.R168insFs
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MESP2

NM_001039958.2:p.R168insFs

Associated Papers

Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.

Cornier AS et al.

American Journal of Human Genetics, 2008

Defective somitogenesis and abnormal vertebral segmentation in man.

Turnpenny PD

Advances in Experimental Medicine and Biology, 2008

Mutated MESP2 causes spondylocostal dysostosis in humans.

Whittock NV et al.

American Journal of Human Genetics, 2004

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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."