| Entry |
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| Name |
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| Type |
Loss of function
|
|---|
| Gene |
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|---|
| Organism |
hsa_var Human gene variants (Homo sapiens)
|
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| Variation |
|
|---|
| Network |
nt06539 Cytoskeleton in muscle cells |
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| Disease |
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|---|
| Reference |
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|---|
| Authors |
Lamande SR, Bateman JF, Hutchison W, McKinlay Gardner RJ, Bower SP, Byrne E, Dahl HH |
|---|
| Title |
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency. |
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| Journal |
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|---|
| Reference |
|
|---|
| Authors |
Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP |
|---|
| Title |
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. |
|---|
| Journal |
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|---|
| LinkDB |
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