ArticleAmerican journal of ophthalmology case reports2022
Compound dominant-null heterozygosity in a family with
Article in American journal of ophthalmology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors at 1 institution in 1 country.
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Abstract
Purpose: To report on the presence of autosomal dominant and compound dominant-null Observation: The father was minimally symptomatic and referred by his optometrist aged 38. He was diagnosed with rod-cone dystrophy, confirmed to be caused by the previously reported Conclusions and importance: Pathogenic variants in exon 4 of
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