| 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 |
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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 |
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| 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 |
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| Authors |
Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N, Bingler M, Hoffman EP |
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| Title |
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. |
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| Journal |
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| LinkDB |
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