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Paper Details

York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.
Mol Genet Metab
84
2015
CRAC, CRAC channelopathy, Ca(2+), ORAI1, ORAI1-3, STIM1, STIM1 mutations, STIM2, Stormorken syndrome, YPS, York Platelet syndrome, York platelet syndrome, animal cells, chronic myopathy, human, immune deficiency, myopathy, non-syndromic myopathies, patients, platelet, platelet abnormalities, rimmed, syndromic forms of miosis, thrombocytopenia
Author NameAffiliation
Thomas C MarkelloNational Institutes of Health
William P BoneNational Institutes of Health
Elizabeth LeeNational Institutes of Health
Amanda E LinksNational Institutes of Health
Cornelius F BoerkoelNational Institutes of Health
Cornelius F BoerkoelNational Institutes of Health
Roxanne FischerNational Human Genome Research Institute, National Institutes of Health
Camilo ToroNational Institutes of Health
William A GahlNational Institutes of Health, National Human Genome Research Institute
William A GahlNational Institutes of Health, National Human Genome Research Institute
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