rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism.
|
28480548 |
2017 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
POGZ truncating alleles cause syndromic intellectual disability.
|
26739615 |
2016 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders.
|
26942287 |
2016 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
A case of autism spectrum disorder arising from a de novo missense mutation in POGZ.
|
25694107 |
2015 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
De novo POGZ mutations are associated with neurodevelopmental disorders and microcephaly.
|
27148570 |
2015 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Genome sequencing identifies major causes of severe intellectual disability.
|
24896178 |
2014 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations in schizophrenia implicate synaptic networks.
|
24463507 |
2014 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
|
24267886 |
2013 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
|
23375656 |
2013 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Patterns and rates of exonic de novo mutations in autism spectrum disorders.
|
22495311 |
2012 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
De novo gene disruptions in children on the autistic spectrum.
|
22542183 |
2012 |
rs1553212626
|
|
Muscle hypotonia
|
CA |
0.700 |
CausalMutation
|
CLINVAR |
Pogo transposase contains a putative helix-turn-helix DNA binding domain that recognises a 12 bp sequence within the terminal inverted repeats.
|
9862965 |
1999 |