Varaico: Literature-Extracted Genetic Variants

Gene:PHKB
Variant:p.A2insFs
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PHKB

NM_000293.3:p.A2insFs

Associated Papers

Neurological Characteristics of Pediatric Glycogen Storage Disease.

Muzetti JH et al.

Frontiers in Endocrinology, 2021

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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."