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Q51015659-28D53D95-1732-438C-B186-FD9103000467
Q51015659-28D53D95-1732-438C-B186-FD9103000467
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Statement
http://www.wikidata.org/entity/statement/Q51015659-28D53D95-1732-438C-B186-FD9103000467
A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.
P2860
Q51015659-28D53D95-1732-438C-B186-FD9103000467
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51015659-28D53D95-1732-438C-B186-FD9103000467
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wasDerivedFrom
90912aeb1877efe2151c867dae8781b07d710ef7
P2860
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.