Publications
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Filters: Author is Lupski, James R and Keyword is Phosphorylation [Clear All Filters]
Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9-associated disease trait. Am J Med Genet A. 2022 ;188(2):648-657.
. HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease. Science. 2020 ;369(6500):202-207.
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De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. Hum Genet. 2016 ;135(12):1399-1409.
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