Novel COL2A1 Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type

Publisher： John Wiley & Sons Inc

E-ISSN： 1098-1004|36|10|1004-1008

ISSN： 1059-7794

Source： HUMAN MUTATION, Vol.36, Iss.10, 2015-10, pp. : 1004-1008

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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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