Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.S123W
Back to variants list

TWIST1

NM_000474.4:p.S123W

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

Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations.

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

de Heer IM et al.

Plastic and Reconstructive Surgery, 2005

Mutations in the human TWIST gene.

Gripp KW et al.

Human Mutation, 2000

A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

Johnson D et al.

American Journal of Human Genetics, 1998

Craniosynostosis: genes and mechanisms.

Wilkie AO

Human Molecular Genetics, 1997

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."