5′ splice site GC>GT and GT>GC variants differ...

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Human Mutation 2020 / 05

5′ splice site GC>GT and GT>GC variants differ markedly in terms of their functionality and pathogenicity

Lin, Jin‐Huan, Masson, Emmanuelle, Boulling, Arnaud, Hayden, Matthew, Cooper, David N., Férec, Claude, Liao, Zhuan, Chen, Jian‐Min
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Journal:
Human Mutation
DOI:
10.1002/humu.24029
Date:
May, 2020
File:
PDF, 1018 KB
2020
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