rs1114167429
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
|
30368668 |
2019 |
rs886037952
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
|
30368668 |
2019 |
rs886037954
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
|
30368668 |
2019 |
rs886037955
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
|
30368668 |
2019 |
rs1114167429
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
|
27868344 |
2017 |
rs1114167429
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
|
28211982 |
2017 |
rs886037952
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
|
28211982 |
2017 |
rs886037952
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
|
27868344 |
2017 |
rs886037954
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
|
27868344 |
2017 |
rs886037954
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
|
28211982 |
2017 |
rs886037955
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype.
|
28211982 |
2017 |
rs886037955
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
Further evidence that variants in PPP1CB cause a rasopathy similar to Noonan syndrome with loose anagen hair.
|
27868344 |
2017 |
rs1114167429
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
|
27264673 |
2016 |
rs1114167429
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
|
27681385 |
2016 |
rs886037952
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
|
27681385 |
2016 |
rs886037952
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
|
27264673 |
2016 |
rs886037954
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
|
27681385 |
2016 |
rs886037954
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
|
27264673 |
2016 |
rs886037955
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair.
|
27264673 |
2016 |
rs886037955
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease.
|
27681385 |
2016 |
rs1114167429
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs886037952
|
Entrez Id: |
5500 |
Gene Symbol: |
PPP1CB |
PPP1CB
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs886037954
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs886037954
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs886037955
|
PPP1CB;SPDYA
|
NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|