rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
|
26419326 |
2016 |
rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
|
27038415 |
2016 |
rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
|
26879448 |
2016 |
rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
|
26364997 |
2016 |
rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
|
26394714 |
2016 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
|
26394714 |
2016 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.
|
26879448 |
2016 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
|
26364997 |
2016 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency.
|
26419326 |
2016 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
|
27038415 |
2016 |
rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
|
25920937 |
2015 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
|
25920937 |
2015 |
rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.
|
24852103 |
2014 |
rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
|
24253414 |
2014 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia.
|
24852103 |
2014 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
|
24253414 |
2014 |
rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
|
21493957 |
2011 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
|
21493957 |
2011 |
rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.
|
18635593 |
2008 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Biosynthesis, remodelling and functions of mammalian GPI-anchored proteins: recent progress.
|
18635593 |
2008 |
rs1555682938
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.
|
10574991 |
1999 |
rs746882521
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol.
|
10574991 |
1999 |