Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Clinical and genetic spectrum of GSD type 6 in Korea.
Hahn JW et al.
Orphanet Journal of Rare Diseases, 2023
Diagnosis and follow-up of glycogen storage disease (GSD) type VI from the largest GSD center in China.
Luo X et al.
Human Mutation, 2022
Clinical and Genetic Spectra of Inherited Liver Disease in Children in China.
Fang Y et al.
Frontiers in Pediatrics, 2021
33763395 (PubMed )
Supplement: Data_Sheet_1.PDF
A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI.
Liu B et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Novel PYGL mutations in Chinese children leading to glycogen storage disease type VI: two case reports.
Luo X et al.
Bmc Medical Genetics, 2020
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