Varaico: Literature-Extracted Genetic Variants

Gene:CRX
Variant:p.P153delFs
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CRX

NM_000554.6:p.P153delFs

Associated Papers

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1

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

Yi Z et al.

Experimental Eye Research, 2019

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.

Arcot Sadagopan K et al.

Ophthalmic Genetics, 2015

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

Molecular characterization of retinitis pigmentosa in Saudi Arabia.

Aldahmesh MA et al.

Molecular Vision, 2009

Further evidence of autosomal-dominant Leber congenital amaurosis caused by heterozygous CRX mutation.

Wang P et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2007

Molecular genetics of autosomal dominant retinitis pigmentosa (ADRP): a comprehensive study of 43 Italian families.

Ziviello C et al.

Journal of Medical Genetics, 2005

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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."