Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.Q119*
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TWIST1

NM_000474.4:p.Q119*

Associated Papers

Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells.

Crespo NE et al.

International Journal of Environmental Research and Public Health, 2021

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

NGS targeted screening of 100 Scandinavian patients with coronal synostosis.

Topa A et al.

American Journal of Medical Genetics. Part A, 2020

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

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

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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."