Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.S201Y
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TWIST1

NM_000474.4:p.S201Y

Associated Papers

An ENU-induced mutation in Twist1 transactivation domain causes hindlimb polydactyly with complete penetrance and dominant-negatively impairs E2A-dependent transcription.

Chen RZ et al.

Scientific Reports, 2020

Mutation Screening of Candidate Genes in Patients with Nonsyndromic Sagittal Craniosynostosis.

Ye X et al.

Plastic and Reconstructive Surgery, 2016

Closing the Gap: Genetic and Genomic Continuum from Syndromic to Nonsyndromic Craniosynostoses.

Heuzé Y et al.

Current Genetic Medicine Reports, 2014

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO et al.

American Journal of Medical Genetics. Part A, 2007

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

Seto ML et al.

American Journal of Medical Genetics. Part A, 2007

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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."