Functional studies would probably shed light on the consequence of distinct mutations; however, present results and conclusion of functional analyses are diverse among the studies. [nature.com]

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Author information Affiliations Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan Jin Dai & Shiro Ikegawa The Center of Diagnosis and Treatment for Joint Disease, Drum Tower Hospital Affiliated to Medical School [nature.com]