A novel, de novo mutation in PRKAG2 gene: infantile-onset phenotype and signaling pathway involved

Yanchun Xu, Alex Gray, D. Grahame Hardie, Alper Uzun, Sunil Shaw, James Padbury, Chanika Phornphutkul, Yi-Tang Tseng (Lead / Corresponding author)

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Medicine and Dentistry

Biochemistry, Genetics and Molecular Biology

Pharmacology, Toxicology and Pharmaceutical Science