Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.Q28*
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TWIST1

NM_000474.4:p.Q28*

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

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

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

Foo R et al.

Plastic and Reconstructive Surgery, 2009

Neuroimaging findings in children with rare or novel de novo chromosomal anomalies.

Epstein LG et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2008

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

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

Seto ML et al.

American Journal of Medical Genetics. Part A, 2007

Natural TWIST protein variants in a panel of eleven non-human primates: possible implications of TWIST gene-tree for primate species tree.

Gachot-Neveu H et al.

Development Genes and Evolution, 2002

Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.

Dollfus H et al.

American Journal of Medical Genetics, 2002

Mutations in the human TWIST gene.

Gripp KW et al.

Human Mutation, 2000

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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."