Varaico: Literature-Extracted Genetic Variants

Gene:SMOC2
Variant:p.L359R
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SMOC2

NM_001166412.2:p.L359R

Associated Papers

An iPS cell line SDUBMSi0011-A from a multiple epiphyseal dysplasia patient carrying c. 1076T > G mutation in the SMOC2 gene.

Long F et al.

Stem Cell Research, 2021

A SMOC2 variant inhibits BMP signaling by competitively binding to BMPR1B and causes growth plate defects.

Long F et al.

Bone, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."