Varaico: Literature-Extracted Genetic Variants

Gene:PRRX1
Variant:p.F113S
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PRRX1

NM_022716.4:p.F113S

Associated Papers

Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.

Cain B et al.

Biorxiv : the Preprint Server for Biology, 2025

41279221 (PubMed )
Supplement: media-2.xlsx › SuppTable2

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

Kock KH et al.

Nature Communications, 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

Re-focusing on Agnathia-Otocephaly complex.

Dubucs C et al.

Clinical Oral Investigations, 2021

Recurrent agnathia-otocephaly caused by DNA replication slippage in PRRX1.

Dasouki M et al.

American Journal of Medical Genetics. Part A, 2013

Agnathia-otocephaly complex: a case report and examination of the OTX2 and PRRX1 genes.

Herman S et al.

Gene, 2012

PRRX1 is mutated in a fetus with agnathia-otocephaly.

Sergi C et al.

Clinical Genetics, 2011

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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."