Associated Papers
Sumoylation-deficient phosphoglycerate mutase 2 impairs myogenic differentiation.
Zhang Y et al.
Frontiers in Cell and Developmental Biology, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
15 years of PhosphoSitePlus®: integrating post-translationally modified sites, disease variants and isoforms.
Hornbeck PV et al.
Nucleic Acids Research, 2019
Phosphoglycerate mutase deficiency with tubular aggregates in a patient from Panama.
Salameh J et al.
Muscle & Nerve, 2013
Unusual presentation of phosphoglycerate mutase deficiency due to two different mutations in PGAM-M gene.
Tonin P et al.
Neuromuscular Disorders : Nmd, 2009
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.
Hadjigeorgiou GM et al.
Neuromuscular Disorders : Nmd, 1999
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