Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R132_P139ins2
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TWIST1

NM_000474.4:p.R132_P139ins2

Associated Papers

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

Wilkie AO et al.

Pediatrics, 2010

The natural history of patients treated for TWIST1-confirmed Saethre-Chotzen syndrome.

Foo R et al.

Plastic and Reconstructive Surgery, 2009

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

A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals.

Elanko N et al.

Human Mutation, 2001

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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."