rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome.
22711443
2012
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
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
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Premature Thelarche and the PURA Syndrome.
28486374
2017
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination.
21594995
2011
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Proteomic analysis of nuclear factors binding to an intronic enhancer in the myelin proteolipid protein gene.
18266931
2008
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases.
23950017
2013
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Puralpha is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse.
12972605
2003
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
De novo mutations in PURA are associated with hypotonia and developmental delay.
27148565
2015
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Multiple roles for Puralpha in cellular and viral regulation.
19182532
2009
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
29097605
2018
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
The NCBI BioSystems database.
19854944
2010
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Patient with a novel purine-rich element binding protein A mutation.
28164378
2017
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Pur alpha binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome.
17698009
2007
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
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
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
25439098
2014
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Expanding the neurodevelopmental phenotype of PURA syndrome.
29150892
2018
rs1554129039
×
Entrez Id:
5813
Gene Symbol:
PURA
PURA
Dysmorphic features
C
0.700
CausalMutation
CLINVAR
Dendritic location of neural BC1 RNA.
1706516
1991