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Q40253433-1C1F6490-B38F-48DD-AEA3-760E20BA409C
Q40253433-1C1F6490-B38F-48DD-AEA3-760E20BA409C
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Statement
http://www.wikidata.org/entity/statement/Q40253433-1C1F6490-B38F-48DD-AEA3-760E20BA409C
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
P2860
Q40253433-1C1F6490-B38F-48DD-AEA3-760E20BA409C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40253433-1C1F6490-B38F-48DD-AEA3-760E20BA409C
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wasDerivedFrom
80a655ecc9390fca2ad5d70c90c9b4c1c7f069c3
P2860
A study of the clinical and radiological features in a cohort of 93 patients with aCOL2A1mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype