Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.L753P
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CRB1

NM_201253.3:p.L753P

Associated Papers

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K et al.

Human Mutation, 2012

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

Stone EM

American Journal of Ophthalmology, 2007

CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.

Yzer S et al.

Investigative Ophthalmology & Visual Science, 2006

Clinical phenotypes in carriers of Leber congenital amaurosis mutations.

Galvin JA et al.

Ophthalmology, 2005

Evaluation of genotype-phenotype associations in leber congenital amaurosis.

Galvin JA et al.

Retina (philadelphia, Pa.), 0

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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."