Varaico: Literature-Extracted Genetic Variants

Gene:MACF1
Variant:p.Q7025_T7026Splc
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MACF1

NM_001394062.1:p.Q7025_T7026Splc

Associated Papers

Genetic Influence on Neurodevelopment in Nonsyndromic Craniosynostosis.

Timberlake AT et al.

Plastic and Reconstructive Surgery, 2022

Mutations of MACF1, Encoding Microtubule-Actin Crosslinking-Factor 1, Cause Spectraplakinopathy.

Kang L et al.

Frontiers in Neurology, 2019

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

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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."