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Q40253433-46D36D02-D828-4A8B-9C72-D64DDC131AED
Q40253433-46D36D02-D828-4A8B-9C72-D64DDC131AED
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40253433-46D36D02-D828-4A8B-9C72-D64DDC131AED
The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
P2860
Q40253433-46D36D02-D828-4A8B-9C72-D64DDC131AED
BestRank
Statement
http://www.wikidata.org/entity/statement/Q40253433-46D36D02-D828-4A8B-9C72-D64DDC131AED
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Statement
wasDerivedFrom
d15f12817daa77557c5464b6d740b2fea10fdca0
P2860
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder