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LUPSKI, JAMES
One or more keywords matched the following items that are connected to
LUPSKI, JAMES
Item Type
Name
Concept
Actins
Concept
Actin-Related Protein 2-3 Complex
Academic Article
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndrome.
Academic Article
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency.
Academic Article
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Academic Article
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.
Academic Article
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies.
Academic Article
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects.
Academic Article
?-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination.
Search Criteria
Actins