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RNA sequencing resolves a novel noncanonical splice-region variant in
PHKA2
causing glycogen storage disease type IX α2: a case report
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@article{{TP}{156648}, author = {Chen, F., He, J., Cheng, H., Shu, S.}, title = {RNA sequencing resolves a novel noncanonical splice-region variant in <em>PHKA2</em> causing glycogen storage disease type IX α2: a case report}, journal = {Translational Pediatrics}, volume = {0}, number = {0}, year = {2026}, url = {https://tp.amegroups.org/article/view/156648} }