TIMP3 c.319C>T, p.(Arg107Cys): Novel Sequence Variant In Sorsby Fundus Dystrophy
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Introduction: Sorsby fundus dystrophy is a rare autosomal dominant inherited retinal disease. The purpose of this case report is providing evidence to link the novel variant TIMP3 c.319C>T, p.(Arg107Cys), classified as variant of... ...
