Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C591_I592delFs
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CRB1

NM_201253.3:p.C591_I592delFs

Associated Papers

The genetic landscape of inherited retinal dystrophies in Arabs.

Jaffal L et al.

Bmc Medical Genomics, 2023

37127645 (PubMed )
Supplement: 12920_2023_1518_MOESM2_ESM.xlsx › Sheet1

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Bizzari S et al.

Genes, 2021

34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS3.xlsx › Sheet1

The genetics of rod-cone dystrophy in Arab countries: a systematic review.

Jaffal L et al.

European Journal of Human Genetics : Ejhg, 2021

Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.

Jalkh N et al.

Ophthalmic Genetics, 2014

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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."