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Q41735203-8EC510DD-0F69-40FE-8261-09CA3DE7B734
Q41735203-8EC510DD-0F69-40FE-8261-09CA3DE7B734
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http://www.wikidata.org/entity/statement/Q41735203-8EC510DD-0F69-40FE-8261-09CA3DE7B734
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.
P2860
Q41735203-8EC510DD-0F69-40FE-8261-09CA3DE7B734
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41735203-8EC510DD-0F69-40FE-8261-09CA3DE7B734
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wasDerivedFrom
c2b9ae3a971fb523e9fe6e136d571ff683a5c1a5
P2860
Missense and nonsense mutations in the alternatively-spliced exon 2 ofCOL2A1cause the ocular variant of Stickler syndrome