Variant: rs869312812 

    present in Gene: PGAP3
    present in Chromosome: 17
    Position on Chromosome: 39684627
    Alleles of this Variant: G/-;GG

rs869312812 in PGAP3 gene and Abnormality of brain morphology PMID 27120253 2016 Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.

rs869312812 in PGAP3 gene and HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 PMID 27120253 2016 Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.