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Spectrum of Genetic Variants in the Commonest Genes Causing Inherited Retinal Disease in a Large Molecularly Characterised UK Cohort

Siying Lin,Sandra Vermeirsch,Nikolas Pontikos, M Pilar Martin-Gutierrez,Malena Daich Varela,Samantha Malka,Elena Schiff,Hannah Knight,Genevieve Wright,Neringa Jurkute,Mark J. Simcoe,Patrick Yu-Wai-Man,Mariya Moosajee,Michel Michaelides,Omar A. Mahroo,Andrew R. Webster,Gavin Arno

Ophthalmology Retina（2024）

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Key words
Inherited retinal disease,variants,variant classification,genotypes,pathogenic alleles
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