Quantitative changes in gene expression caused by missense variants in deoxyribonucleic acid repair genes
Inherited mutations in DNA repair genes are major contributors to familial cancer syndromes. Most pathogenic mutations introduce premature stop codons resulting in the loss of protein function. Missense variants of uncertain pathogenic significance are also often observed. In an attempt to understan...
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| Format: | Others |
| Language: | en |
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McGill University
2014
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| Online Access: | http://digitool.Library.McGill.CA:80/R/?func=dbin-jump-full&object_id=121151 |