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A variant in <i>SMOC2,</i> inhibiting BMP signaling by competitively binding to BMPR1B, causes multiple epiphyseal dysplasia

2020-01-28

Abstract excerpt

Previously study showed that SMOC, a matricellular protein, inhibits BMP signaling downstream of its receptor via activation of mitogen-activated protein kinase (MAPK) signaling. In our study, exome sequencing revealed a missense mutation (c.1076T>G, p.Leu359Arg) in EC domain of SMOC2 in a Chinese family with multiple epiphyseal disease (MED). The pathogenicity of this SMOC2 variant was verified by Smoc2 L359R/L...

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Identifiers and source

Literature Corpus work
a2956fae-581b-50fb-9d6f-b7e6e7ac33e0
DOI
10.1101/2020.01.27.921825
Open publication

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