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Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthr...

Fukumura(Shinobu),Ohba(Chihiro),Watanabe(T... J Hum Genet 2016-04-12

...GFM2, which encodes a mitochondrial ribosome recycling factor. A few patients with mutations in some of these genes have...

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar(Tracy J),Silhavy(Jennifer L)... Sci Transl Med 2012-10-19

...GFM2 in a patient with microcephaly, simplified gyral pattern, and insulin-dependent diabetes. Exome sequencing uncovere...

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