Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C948S
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CRB1

NM_201253.3:p.C948S

Associated Papers

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

Defining inclusion criteria and endpoints for clinical trials: a prospective cross-sectional study in CRB1-associated retinal dystrophies.

Talib M et al.

Acta Ophthalmologica, 2021

33528094 (PubMed )
Supplement: AOS-99-e402-s003.pdf
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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."