Variant: rs104893940 

    present in Gene: MED23;ARG1
    present in Chromosome: 6
    Position on Chromosome: 131583810
    Alleles of this Variant: C/T

rs104893940 in MED23;ARG1 gene and Hyperargininemia PMID 24103480 2014 Novel complex re-arrangement of ARG1 commonly shared by unrelated patients with hyperargininemia.

PMID 8902193 1996 Loss of function mutations in conserved regions of the human arginase I gene.

PMID 18957279 2009 Studies on the functional significance of a C-terminal S-shaped motif in human arginase type I: essentiality for cooperative effects.

PMID 1598908 1992 Molecular genetic study of human arginase deficiency.

PMID 27038030 2016 Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

PMID 19052914 2008 Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency.