Entry |
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Name |
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Gene |
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Organism |
hsa_var Human gene variants (Homo sapiens)
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Variation |
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Network |
nt06539 Cytoskeleton in muscle cells |
Disease |
H00579 | Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) |
H00877 | Brain small vessel disease |
|
Reference |
|
Authors |
Plaisier E, Chen Z, Gekeler F, Benhassine S, Dahan K, Marro B, Alamowitch S, Paques M, Ronco P |
Title |
Novel COL4A1 mutations associated with HANAC syndrome: a role for the triple helical CB3[IV] domain. |
Journal |
|
Reference |
|
Authors |
Giau VV, Bagyinszky E, Youn YC, An SSA, Kim SY |
Title |
Genetic Factors of Cerebral Small Vessel Disease and Their Potential Clinical Outcome. |
Journal |
|
Reference |
|
Authors |
Zenteno JC, Crespi J, Buentello-Volante B, Buil JA, Bassaganyas F, Vela-Segarra JI, Diaz-Cascajosa J, Marieges MT |
Title |
Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity. |
Journal |
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LinkDB |
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