Variant: rs121913075 

    present in Gene: F13B
    present in Chromosome: 1
    Position on Chromosome: 197055720
    Alleles of this Variant: C/A

rs121913075 in F13B gene and Factor XIII, B Subunit, Deficiency Of PMID 8324218 1993 Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.

PMID 26247044 2015 Structural and functional influences of coagulation factor XIII subunit B heterozygous missense mutants.

PMID 11313256 2001 Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation.

PMID 20331752 2010 Mutations affecting disulphide bonds contribute to a fairly common prevalence of F13B gene defects: results of a genetic study in 14 families with factor XIII B deficiency.