Varaico: Literature-Extracted Genetic Variants

Gene:PFKM
Variant:p.A717delFs
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PFKM

NM_000289.6:p.A717delFs

Associated Papers

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

Vega AI et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."