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Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis

Erin E Baschal, Cambria I Wethey, Kandice Swindle, Robin M Baschal, Katherine Gowan, Nelson L S Tang, David M Alvarado, Gabe E Haller, Matthew B Dobbs, Matthew R G Taylor, Christina A Gurnett, Kenneth L Jones, Nancy H Miller

G3 Genes|Genomes|Genetics, 2015. DOI 10.1534/g3.114.015669

Has this study been replicated?

The atlas records 1 replication of this study. Recorded outcomes: 1 failed.

Replications

• Rare variant of HSPG2 is not involved in the development of adolescent idiopathic scoliosis: evidence from a large-scale replication study, Xia et al. (2019). Outcome recorded: failed. HSPG2 gene was not associated with the susceptibility or the phenotypes of AIS in the Chinese population. View paper

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