Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.S152Y
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CRX

NM_000554.6:p.S152Y

Associated Papers

Pathogenicity discrimination and genetic test reference for CRX variants based on genotype-phenotype analysis.

Yi Z et al.

Experimental Eye Research, 2019

Genome Editing as a Treatment for the Most Prevalent Causative Genes of Autosomal Dominant Retinitis Pigmentosa.

Diakatou M et al.

International Journal of Molecular Sciences, 2019

Mechanisms of blindness: animal models provide insight into distinct CRX-associated retinopathies.

Tran NM et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2014

Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study.

Jin ZB et al.

Journal of Medical Genetics, 2008

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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."