|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
|
29097605 |
2018 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Expanding the neurodevelopmental phenotype of PURA syndrome.
|
29150892 |
2018 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Expanding the neurodevelopmental phenotype of PURA syndrome.
|
29150892 |
2018 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
|
29097605 |
2018 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Patient with a novel purine-rich element binding protein A mutation.
|
28164378 |
2017 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Patient with a novel purine-rich element binding protein A mutation.
|
28164378 |
2017 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Premature Thelarche and the PURA Syndrome.
|
28486374 |
2017 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Premature Thelarche and the PURA Syndrome.
|
28486374 |
2017 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
De novo mutations in PURA are associated with hypotonia and developmental delay.
|
27148565 |
2015 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.
|
26582469 |
2015 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
De novo mutations in PURA are associated with hypotonia and developmental delay.
|
27148565 |
2015 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA.
|
26582469 |
2015 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
|
25342064 |
2014 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.
|
25342064 |
2014 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
|
25439098 |
2014 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
|
25439098 |
2014 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.
|
23950017 |
2013 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.
|
23950017 |
2013 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
|
22711443 |
2012 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
|
22711443 |
2012 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.
|
21594995 |
2011 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.
|
21594995 |
2011 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
The NCBI BioSystems database.
|
19854944 |
2010 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
CausalMutation |
CLINVAR |
The NCBI BioSystems database.
|
19854944 |
2010 |
|
| Entrez Id: |
5813 |
| Gene Symbol: |
PURA |
PURA
|
Muscle hypotonia
|
0.100 |
GeneticVariation |
CLINVAR |
Multiple roles for Puralpha in cellular and viral regulation.
|
19182532 |
2009 |