Varaico: Literature-Extracted Genetic Variants

Gene:TWIST1
Variant:p.K133_P139ins2
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TWIST1

NM_000474.4:p.K133_P139ins2

Associated Papers

Prospect of genetic disorders in Saudi Arabia.

Alqahtani AS et al.

Frontiers in Genetics, 2023

37799141 (PubMed )
Supplement: Table2.xlsx › Supplementary_table_2._

Clinical and Genetic Characterization of Craniosynostosis in Saudi Arabia.

Alghamdi M et al.

Frontiers in Pediatrics, 2021

Molecular Diagnosis of Craniosynostosis Using Targeted Next-Generation Sequencing.

Yoon JG et al.

Neurosurgery, 2020

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

Woods RH 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

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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."