Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C939Y
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CRB1

NM_201253.3:p.C939Y

Associated Papers

Unsupervised learning reveals landscape of local structural motifs across protein classes.

Derry A et al.

Bioinformatics (oxford, England), 2025

40569048 (PubMed )
Supplement: btaf377_supplementary_data.zip › Supplementary_material_PDF.pdf

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K et al.

Human Mutation, 2012

Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.

Walia S et al.

Ophthalmology, 2010

Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.

den Hollander AI et al.

Investigative Ophthalmology & Visual Science, 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."