Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R39G
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TWIST1

NM_000474.4:p.R39G

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

Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

Wilkie AO et al.

Pediatrics, 2010

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

Woods RH et al.

Plastic and Reconstructive Surgery, 2009

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO et al.

American Journal of Medical Genetics. Part A, 2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO et al.

American Journal of Medical Genetics. Part A, 2006

Functional analysis of natural mutations in two TWIST protein motifs.

Funato N et al.

Human Mutation, 2005

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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."