Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.S95Fs
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TWIST1

NM_000474.4:p.S95Fs

Associated Papers

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

Functional analysis of natural mutations in two TWIST protein motifs.

Funato N et al.

Human Mutation, 2005

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."