Varaico: Literature-Extracted Genetic Variants

Gene:GFER
Variant:p.R72delFs
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GFER

NM_005262.3:p.R72delFs

Associated Papers

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data.

Nambot S et al.

Clinical Genetics, 2017

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

Lazaridis KN et al.

Mayo Clinic Proceedings, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."