Varaico: Literature-Extracted Genetic Variants

Gene:CRB2
Variant:p.F1041S
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CRB2

NM_173689.7:p.F1041S

Associated Papers

CRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.

Buck TM et al.

Stem Cell Reports, 2023

37541258 (PubMed )
Supplement: mmc2.pdf

AAV-mediated gene augmentation therapy of CRB1 patient-derived retinal organoids restores the histological and transcriptional retinal phenotype.

Boon N et al.

Stem Cell Reports, 2023

37084726 (PubMed )
Supplement: mmc5.pdf
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