Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.L767P
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CRB1

NM_201253.3:p.L767P

Associated Papers

CRB1-associated retinal dystrophy presenting as self-resolving opsoclonus and posterior uveitis.

Li AS et al.

American Journal of Ophthalmology Case Reports, 2022

Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Bryant L et al.

Clinical Ophthalmology (auckland, N.z.), 2018

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

Stone EM

American Journal of Ophthalmology, 2007

Inherited retinal disease-associated uveitis.

Hung JH et al.

Survey of Ophthalmology, 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."