×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
28126652
2017
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
24556213
2014
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
A novel splice mutation in PAK3 gene underlying mental retardation with neuropsychiatric features.
18523455
2008
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
Abnormal long-lasting synaptic plasticity and cognition in mice lacking the mental retardation gene Pak3.
16014725
2005
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
Improvement of Self-Injury With Dopamine and Serotonin Replacement Therapy in a Patient With a Hemizygous PAK3 Mutation: A New Therapeutic Strategy for Neuropsychiatric Features of an Intellectual Disability Syndrome.
29246092
2018
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
Missense mutation in PAK3, R67C, causes X-linked nonspecific mental retardation.
10946356
2000
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
Next-Generation Sequencing Reveals Novel Mutations in X-linked Intellectual Disability.
28481730
2017
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
PAK3 mutation in nonsyndromic X-linked mental retardation.
9731525
1998
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
PAK3 related mental disability: further characterization of the phenotype.
17853471
2007
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway.
17537723
2007
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
25666757
2015
×
Entrez Id:
5063
Gene Symbol:
PAK3
PAK3
0.300
Biomarker
disease
CLINGEN
X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3.
12884430
2003