Single base-pair substitutions at the tr
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Andreas Wolf; Amke Caliebe; Nick S.T. Thomas; Edward V. Ball; Matthew Mort; Pete
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Article
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2011
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John Wiley and Sons
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English
⚖ 236 KB
A total of 405 unique single base-pair substitutions, located within the ATG translation initiation codons (TICs) of 255 different genes, and reported to cause human genetic disease, were retrieved from the Human Gene Mutation Database (HGMD). Although these lesions comprised only 0.7% of coding seq