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Journal of Medical Genetics|April 8, 2022
FXR1-related congenital myopathy: expansion of the clinical and genetic spectrumMagdalena Mroczek, Cheryl Longman, Maria Elena Farrugia, et al.American Journal of Human Genetics|April 6, 2010
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaYasemin Alanay, Hrispima Avaygan, Natalia Camacho, et al.American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.Pageof 6