A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
Yang X, Zhang D, Shen S, Li P, Li M, Niu J, Ma D, Xu D, Li S, Guo X, Wang Z, Zhao Y, Ren H, Ling C, Wang Y, Fan Y, Shen J, Zhu Y, Wang D, Cui L, Chen L, Shi C, Dai Y.
Yang X, et al. Among authors: ling c.
BMC Med Genomics. 2023 Oct 20;16(1):253. doi: 10.1186/s12920-023-01586-9.
BMC Med Genomics. 2023.
PMID: 37864208
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