Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.T121I
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TWIST1

NM_000474.4:p.T121I

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Roscioli T et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2013

Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

Woods RH et al.

Plastic and Reconstructive Surgery, 2009

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO et al.

American Journal of Medical Genetics. Part A, 2007

Clinical dividends from the molecular genetic diagnosis of craniosynostosis.

Wilkie AO et al.

American Journal of Medical Genetics. Part A, 2006

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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."