Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.P598delFs
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CRB1

NM_201253.3:p.P598delFs

Associated Papers

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.

Roshandel D et al.

Translational Vision Science & Technology, 2021

The genetic profile of Leber congenital amaurosis in an Australian cohort.

Thompson JA et al.

Molecular Genetics & Genomic Medicine, 2017

29178642 (PubMed )
Supplement: MGG3-5-652-s001.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."