Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.F296C
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CRX

NM_000554.6:p.F296C

Associated Papers

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Hull S et al.

Investigative Ophthalmology & Visual Science, 2014

[Genetic and clinical heterogeneity in LCA patients. The end of uniformity].

Preising MN et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2007

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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."