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Q36220818-534CD600-1632-4DA1-B69A-B000301485E9
Q36220818-534CD600-1632-4DA1-B69A-B000301485E9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36220818-534CD600-1632-4DA1-B69A-B000301485E9
Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.
P2860
Q36220818-534CD600-1632-4DA1-B69A-B000301485E9
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36220818-534CD600-1632-4DA1-B69A-B000301485E9
rank
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type
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wasDerivedFrom
3f8ff78a4b3e4bb74d8389102fa32ec584922ce7
P2860
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.