rs587784024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Independent mechanisms recruit the cohesin loader protein NIPBL to sites of DNA damage.
|
28167679 |
2017 |
rs587784024
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.
|
26725122 |
2016 |
rs587784024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Two novel NIPBL gene mutations in Chinese patients with Cornelia de Lange syndrome.
|
25447906 |
2015 |
rs587784024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of NIPBL gene mutations in Polish patients with Cornelia de Lange syndrome.
|
23254390 |
2013 |
rs587784024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Isolated NIBPL missense mutations that cause Cornelia de Lange syndrome alter MAU2 interaction.
|
21934712 |
2012 |
rs587784024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome.
|
20358602 |
2010 |
rs587784024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical and genetic analysis of Korean patients with Cornelia de Lange syndrome: two novel NIPBL mutations.
|
20124326 |
2010 |
rs587784024
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlations of 39 patients with Cornelia De Lange syndrome: the Dutch experience.
|
16236812 |
2006 |
rs587784024
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Precocious sister chromatid separation (PSCS) in Cornelia de Lange syndrome.
|
16100726 |
2005 |
rs587784024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
|
15318302 |
2004 |
rs587784024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.
|
15146185 |
2004 |
rs587784024
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.
|
15146186 |
2004 |