JAMES LUPSKI to Glycogen
This is a "connection" page, showing publications JAMES LUPSKI has written about Glycogen.
Connection Strength
0.102
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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features. Hum Mol Genet. 2023 10 04; 32(20):2981-2995.
Score: 0.055
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Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathy. Am J Hum Genet. 2021 07 01; 108(7):1301-1317.
Score: 0.047