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Allele Publication :

Type  Used-FC Publication . Mgi Jnum  J:220518
Publication . Citation  Hu H, et al. (2014) Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness. Ann Clin Transl Neurol 1(12):1024-35
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