Associated Papers
A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.
Zhang Z et al.
Bmc Medical Genomics, 2021
Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson GC et al.
Human Mutation, 2012
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