Variant: rs1567871748 

    present in Gene: PGAP3
    present in Chromosome: 17
    Position on Chromosome: 39674043
    Alleles of this Variant: G/T

rs1567871748 in PGAP3 gene and Abnormality of head or neck PMID 30217754 2019 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

rs1567871748 in PGAP3 gene and Congenital neurologic anomalies PMID 30217754 2019 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

rs1567871748 in PGAP3 gene and Growth abnormality PMID 30217754 2019 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.

rs1567871748 in PGAP3 gene and HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 4 PMID 30217754 2019 Hyperphosphatasia with mental retardation syndrome type 4 In two siblings-expanding the phenotypic and mutational spectrum.