Entry |
|
Name |
|
Gene |
|
Organism |
hsa_var Human gene variants (Homo sapiens)
|
Variation |
|
Network |
nt06512 Chromosome cohesion and segregation |
Disease |
H02583 | X-linked intellectual disability-hypotonic facies syndrome |
|
Reference |
|
Authors |
Gibbons RJ, Picketts DJ, Villard L, Higgs DR |
Title |
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). |
Journal |
|
Reference |
|
Authors |
Ritchie K, Seah C, Moulin J, Isaac C, Dick F, Berube NG |
Title |
Loss of ATRX leads to chromosome cohesion and congression defects. |
Journal |
|
LinkDB |
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