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Q54366762-E60B3DE0-AFA8-4D6F-A022-65FC504B5A6D
Q54366762-E60B3DE0-AFA8-4D6F-A022-65FC504B5A6D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54366762-E60B3DE0-AFA8-4D6F-A022-65FC504B5A6D
Splicing aberrations caused by constitutional RB1 gene mutations in retinoblastoma.
P2860
Q54366762-E60B3DE0-AFA8-4D6F-A022-65FC504B5A6D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54366762-E60B3DE0-AFA8-4D6F-A022-65FC504B5A6D
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wasDerivedFrom
a516192129128eb6e0d6f5441867afd806317096
P2860
Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.