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Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.
Kumar TV, Bhat M, Narayanachar SG, Narayan V, Srikanth AK, Anikar S, Shetty S. Kumar TV, et al. PLoS One. 2022 Jul 14;17(7):e0270373. doi: 10.1371/journal.pone.0270373. eCollection 2022. PLoS One. 2022. PMID: 35834487 Free PMC article.
Forty-nine pathogenic variations were detected of which 27 were novel. Variations were spread across GSDIa, Ib, III, VI, IXa, b and c. The largest subgroup was GSDIII in 28 individuals with 24 variations (12 novel) in AGL. ...
Forty-nine pathogenic variations were detected of which 27 were novel. Variations were spread across GSDIa, Ib, III, VI, IXa, b and c …