Variant: rs113994145 

    present in Gene: PC
    present in Chromosome: 11
    Position on Chromosome: 66851880
    Alleles of this Variant: C/T

rs113994145 in PC gene and Pyruvate Carboxylase Deficiency Disease PMID 18676167 2008 The molecular basis of pyruvate carboxylase deficiency: mosaicism correlates with prolonged survival.

PMID 19306334 2009 Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.