Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R154insFs
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TWIST1

NM_000474.4:p.R154insFs

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

32051525 (PubMed )
Supplement: 41598_2020_59455_MOESM3_ESM.pdf

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

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome.

Cai J et al.

Clinical Genetics, 2003

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."