Varaico: Literature-Extracted Genetic Variants

Gene:RAX
Variant:p.T50P
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RAX

NM_013435.3:p.T50P

Associated Papers

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

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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."