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Spectrum of Genetic Variants in the Most Common Genes Causing Inherited Retinal Disease in a Large Molecularly Characterized United Kingdom Cohort

Siying Lin,Sandra Vermeirsch,Nikolas Pontikos, Siying Frcophth,Maria 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）

引用 4|浏览22
关键词
Genotypes,Inherited retinal disease,Pathogenic alleles,Variant classi fi ca- tion,Variants
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