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Q24619758-E24FDA5F-42EC-4703-B266-00B5F8400F70
Q24619758-E24FDA5F-42EC-4703-B266-00B5F8400F70
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24619758-E24FDA5F-42EC-4703-B266-00B5F8400F70
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa
P2860
Q24619758-E24FDA5F-42EC-4703-B266-00B5F8400F70
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24619758-E24FDA5F-42EC-4703-B266-00B5F8400F70
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wasDerivedFrom
c3aa46ffe014b6e4cb259f5dc6ba83d1416ecb9c
P2860
RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa