Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.P870delFs
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PHKA2

NM_000292.3:p.P870delFs

Associated Papers

Glycogen storage disorder types IX: the mutation spectrum and ethnic distribution.

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

Wang J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013

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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."