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Article

Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.

BMC ophthalmology - 15 Apr 2024

Daher Ahmad, Banjak Malak, Noureldine Jinane, Nehme Joseph, El Shamieh Said

Abstract excerpt

PURPOSE: The goal of the study was to search for novel bi-allelic CRB1 mutations, and then to analyze the CRB1 literature at the genotypic and phenotypic levels. APPROACH: We screened various variables such as the CRB1 mutation types, domains, exons, and genotypes and their relation with specific ocular phenotypes. An emphasis was given to the bi-allelic missense and nonsense mutations because of their high...

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Identifiers

PMID: 38622537
DOI: 10.1186/s12886-024-03419-4
PMCID: PMC11017593

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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