Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.A152V
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TWIST1

NM_000474.4:p.A152V

Associated Papers

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Bukowska-Olech E et al.

Frontiers in Molecular Biosciences, 2022

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

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

Mutations in the human TWIST gene.

Gripp KW et al.

Human Mutation, 2000

Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

Paznekas WA et al.

American Journal of Human Genetics, 1998

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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."