Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.T148A
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TWIST1

NM_000474.4:p.T148A

Associated Papers

Genome-wide association study identifies candidate genes affecting body conformation traits of Zhongwei goat.

Han M et al.

Bmc Genomics, 2025

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

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

Foo R 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

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."