Varaico: Literature-Extracted Genetic Variants

Gene:PHKA1
Variant:p.L534fs
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PHKA1

NM_002637.4:p.L534fs

Associated Papers

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

Geramizadeh B et al.

Orphanet Journal of Rare Diseases, 2024

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.

Hildebrand MS et al.

Neurology, 2020

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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."