Disease-Causing Variants in Inherited Retinal Diseases Genes in an Ethnically Diverse Pakistani population--Experience from an Academic Medical Center
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Co-Author - Malika Fatima, PharmaD; Presenting Author - Maheen Zakaria, BSc; Co-Author - Fizza Akbar, BSc, MSc; Co-Author - Irfan Jeeva, MBBS; Co-Author - Haroon Tayyab, MBBS; Co-Author - Rehman Siddiqui, MBBS; Co-Author - Salman Kirmani, Dr., MBBS, FACMG;
Meta Tag
Eye disorders
Genetic Testing
Identification of Disease Genes
NextGen Sequencing
Variant Detection
Co-Author Malika Fatima, PharmaD
Co-Author Fizza Akbar, BSc, MSc
Co-Author Irfan Jeeva, MBBS
Co-Author Haroon Tayyab, MBBS
Co-Author Rehman Siddiqui, MBBS
Co-Author Salman Kirmani, Dr., MBBS, FACMG
Presenting Author Maheen Zakaria, BSc
Keywords
disease-causing variants
inherited retinal diseases
ethnically diverse Pakistani population
genetic testing
Next Generation Sequencing
Inherited Retinal Disorders Panel
pathogenic variants
diagnostic yield
genetically heterogeneous
founder variants

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