Varaico: Literature-Extracted Genetic Variants

Gene:PHKA1
Variant:p.L1134delFs
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PHKA1

NM_002637.4:p.L1134delFs

Associated Papers

Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis.

Rudolfová J et al.

Journal of Inherited Metabolic Disease, 2001

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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."