rs1557196978 in
ATP6AP1 gene and
IMMUNODEFICIENCY 47
PMID 29396028 2018 Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
PMID 27231034 2016 ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.
rs878853275 in
GDI1;ATP6AP1 gene and
IMMUNODEFICIENCY 47
PMID 27231034 2016 ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation.