Varaico: Literature-Extracted Genetic Variants

Gene:PHKA2
Variant:p.R298*
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PHKA2

NM_000292.3:p.R298*

Associated Papers

Fatty Liver Caused by Glycogen Storage Disease Type IX: A Small Series of Cases in Children.

Leuzinger Dias C et al.

Ge Portuguese Journal of Gastroenterology, 2019

Molecular Characterization and Putative Pathogenic Pathways of Tuberous Sclerosis Complex-Associated Renal Cell Carcinoma.

Park JH et al.

Translational Oncology, 2018

29925043 (PubMed )
Supplement: mmc3.xlsx › Table_7
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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."