RS201337954 NGLY1
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What This Variant Does
"rs201337954, also known as Arg401Ter or R401X, is a mutation in the NGLY1 gene encoding N-glycanase....
Associated Conditions
Congenital disorder of deglycosylation
Congenital disorder of deglycosylation 1
Congenital disorder of deglycosylation
Congenital disorder of deglycosylation 1
Other Variants in NGLY1