Varaico: Literature-Extracted Genetic Variants

Gene:RAX2
Variant:p.P52R
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RAX2

NM_001319074.4:p.P52R

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

Molecular analysis of RAX2-regulated retinal development using human retinal organoids at a single-cell resolution.

Wang S et al.

Frontiers in Cell and Developmental Biology, 2025

Expanding the Mutation Spectrum for Inherited Retinal Diseases.

Lynn J et al.

Genes, 2024

Disease-causing mutations in genes encoding transcription factors critical for photoreceptor development.

Sun C et al.

Frontiers in Molecular Neuroscience, 2023

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."