|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
|
28386848 |
2018 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.
|
28386848 |
2018 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.
|
28667884 |
2017 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
|
27991732 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
|
27991732 |
2017 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
|
28941052 |
2017 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.
|
27701732 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
|
28941052 |
2017 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.
|
28667884 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.
|
27701732 |
2017 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
|
26866722 |
2016 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.
|
26866722 |
2016 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
|
24614070 |
2014 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.
|
24614070 |
2014 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
|
23849776 |
2013 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
|
22495306 |
2012 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
|
22495306 |
2012 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
|
21844811 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The DNMT3 family of mammalian de novo DNA methyltransferases.
|
21507354 |
2011 |
|
Movement Disorders
|
|
0.700 |
CausalMutation
|
CLINVAR |
The DNMT3 family of mammalian de novo DNA methyltransferases.
|
21507354 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
|
21844811 |
2011 |
|
Muscle hypotonia
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.
|
20729844 |
2010 |