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Q40253433-2E7D9AE4-6DAD-470B-A5F0-D8778B286DEA
Q40253433-2E7D9AE4-6DAD-470B-A5F0-D8778B286DEA
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Statement
http://www.wikidata.org/entity/statement/Q40253433-2E7D9AE4-6DAD-470B-A5F0-D8778B286DEA
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
P2860
Q40253433-2E7D9AE4-6DAD-470B-A5F0-D8778B286DEA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40253433-2E7D9AE4-6DAD-470B-A5F0-D8778B286DEA
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Statement
wasDerivedFrom
d15f12817daa77557c5464b6d740b2fea10fdca0
P2860
A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasia