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Novel COL2A1 variant (c.619G>A, p.Gly207Arg) manifesting as a phenotype similar to progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia, Stanescu type

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author: Moon-Woo Seong  Sung Wook Park  Tae-Joon Cho 

Publication date July 17, 2015
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