Varaico: Literature-Extracted Genetic Variants

Gene:MSX2
Variant:p.P148L
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MSX2

NM_002449.5:p.P148L

Associated Papers

Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.

Umerenkov D et al.

Life Science Alliance, 2023

37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM

De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

Timberlake AT et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Miller KA et al.

Journal of Medical Genetics, 2017

A Genetic-Pathophysiological Framework for Craniosynostosis.

Twigg SR et al.

American Journal of Human Genetics, 2015

Boston type craniosynostosis: report of a second mutation in MSX2.

Florisson JM et al.

American Journal of Medical Genetics. Part A, 2013

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

Molecular Mechanisms Involved in Craniosynostosis.

Yapijakis C et al.

In Vivo (athens, Greece), 0

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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."