Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C174*
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CRB1

NM_201253.3:p.C174*

Associated Papers

GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.

Rashid I et al.

Nar Genomics and Bioinformatics, 2025

41229399 (PubMed )
Supplement: lqaf143_supplemental_file.xls › Pathogenic

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.

Moekotte L et al.

Investigative Ophthalmology & Visual Science, 2025

39982393 (PubMed )
Supplement: iovs-66-2-55_s001.xlsx › Supplementary_Table_1

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

Stone EM

American Journal of Ophthalmology, 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."