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Population record

· 2 retained evidence mentions

Supporting evidence

TypeEntitySource evidenceConfidenceExtractor
populationPopulation“The genetic spectrum of achromatopsia in consanguineous families: insights from Whole exome sequencing across 15 affected individuals.”0.80saudi_context_rules_v1
populationPopulation“METHODS: Retrospective cohort study of 15 unrelated patients (nine males and six females, median age 16, range 5-47 years) diagnosed with CDSRR by clinical examination, full-field electroretinography (ERG) and genetic testing. RESULTS: The rate of consanguinity was 86.7%.”0.80saudi_context_rules_v1