Varaico: Literature-Extracted Genetic Variants

Gene:PRRX1
Variant:p.R95*
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PRRX1

NM_022716.4:p.R95*

Associated Papers

Multi-locus pathogenic variation identified in a patient with craniosynostosis.

Yoon JG et al.

American Journal of Medical Genetics. Part A, 2024

Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.

Tooze RS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

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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."