PMID 26077850 2015 High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.
PMID 17314402 2007 Fatty acid remodeling of GPI-anchored proteins is required for their raft association.
PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
rs1242562412 in
ERBB2;PGAP3 gene and
Movement Disorders
PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
PMID 17314402 2007 Fatty acid remodeling of GPI-anchored proteins is required for their raft association.
PMID 26077850 2015 High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.
PMID 24439110 2014 Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
rs1242562412 in
ERBB2;PGAP3 gene and
Muscle hypotonia
PMID 22265715 2012 GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics.
PMID 17314402 2007 Fatty acid remodeling of GPI-anchored proteins is required for their raft association.
PMID 28390064 2018 PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
PMID 26077850 2015 High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders.
PMID 24439110 2014 Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.