Varaico: Literature-Extracted Genetic Variants

Gene:RAX
Variant:p.R192Q
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RAX

NM_013435.3:p.R192Q

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

Novel homozygous mutation in the human RAX homeobox gene in a patient with bilateral anophthalmia and severe endocrine dysfunction - a case report and literature review.

El-Nahry YHA et al.

Case Reports in Perinatal Medicine, 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

37154149 (PubMed )
Supplement: mmc2.pdf

Truncating RAX Mutations: Anophthalmia, Hypopituitarism, Diabetes Insipidus, and Cleft Palate in Mice and Men.

Brachet C et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

RAX and anophthalmia in humans: evidence of brain anomalies.

Abouzeid H et al.

Molecular Vision, 2012

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.

Gonzalez-Rodriguez J et al.

The British Journal of Ophthalmology, 2010

Confirmation of RAX gene involvement in human anophthalmia.

Lequeux L et al.

Clinical Genetics, 2008

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.

Voronina VA et al.

Human Molecular Genetics, 2004

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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."