RNA sequencing resolves a novel noncanonical splice-region variant in PHKA2 causing glycogen storage disease type IX α2: a case report
@article{TP156648,
author = {Fan Chen and Jiayi He and Henghui Cheng and Sainan Shu},
title = {RNA sequencing resolves a novel noncanonical splice-region variant in PHKA2 causing glycogen storage disease type IX α2: a case report},
journal = {Translational Pediatrics},
volume = {0},
number = {0},
year = {2026},
keywords = {},
abstract = {},
issn = {2224-4344}, url = {https://tp.amegroups.org/article/view/156648}
}