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Q41056647-13D4A561-882F-4E44-B2F3-253FB0131E00
Q41056647-13D4A561-882F-4E44-B2F3-253FB0131E00
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41056647-13D4A561-882F-4E44-B2F3-253FB0131E00
Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy.
P2860
Q41056647-13D4A561-882F-4E44-B2F3-253FB0131E00
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41056647-13D4A561-882F-4E44-B2F3-253FB0131E00
rank
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type
BestRank
Statement
wasDerivedFrom
07673ad5c60a61ce61bfb3cb381d13ecce2d913d
P2860
A novel missense NDP mutation [p.(Cys93Arg)] with a manifesting carrier in an austrian family with Norrie disease.