Varaico: Literature-Extracted Genetic Variants

Gene:PHKA1
Variant:p.R555W
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PHKA1

NM_002637.4:p.R555W

Associated Papers

Recurrent rhabdomyolysis as a presenting feature of glycogenosis IX (GSD IX): a case report.

Seminara A et al.

Archivos Argentinos De Pediatria, 2025

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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."