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Q34135469-2A9A27F2-E2CC-467D-AAA7-60A0C1953C12
Q34135469-2A9A27F2-E2CC-467D-AAA7-60A0C1953C12
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34135469-2A9A27F2-E2CC-467D-AAA7-60A0C1953C12
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
P2093
Q34135469-2A9A27F2-E2CC-467D-AAA7-60A0C1953C12
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34135469-2A9A27F2-E2CC-467D-AAA7-60A0C1953C12
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
a83ea35812d5a268dd0ed23f27b561344659ff8d
P1545
18
http://www.w3.org/2001/XMLSchema#string
P2093
Daniel F Schorderet
http://www.w3.org/2001/XMLSchema#string