Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.L154P
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MSX2

NM_002449.5:p.L154P

Associated Papers

Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.

Janssen A et al.

American Journal of Medical Genetics. Part A, 2013

Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Mavrogiannis LA et al.

European Journal of Human Genetics : Ejhg, 2006

A novel mutation in the MSX2 gene in a family with foramina parietalia permagna (FPP).

Spruijt L et al.

American Journal of Medical Genetics. Part A, 2005

Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna.

Wuyts W et al.

Human Molecular Genetics, 2000

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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."