Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.R132P
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TWIST1

NM_000474.4:p.R132P

Associated Papers

Digenic impairments of haploinsufficient genes in patients with craniosynostosis.

Yu JW et al.

Jci Insight, 2025

39989454 (PubMed )
Supplement: jciinsight-10-176985-s042.pdf

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

Passos-Bueno MR et al.

Frontiers of Oral Biology, 2008

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

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."