Varaico: Literature-Extracted Genetic Variants

Gene:PFKFB1
Variant:p.M47V
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PFKFB1

NM_002625.4:p.M47V

Associated Papers

Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

Lim BC et al.

Gene, 2014

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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."