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Article

Determining the pathogenicity of MUT gene variant by mini-gene splicing assay

2021-02-20

Abstract excerpt

<h4>Objective</h4> To perform gene mutation splicing analysis on 12 suspected pathogenic MMUT/MUT gene mutation sites to verify the pathogenicity of the mutation. <h4>Methods</h4> Wild-type and mutant minigenes were inserted into pcMINI vector, and total 5 wild-type recombinant vectors and 12 mutant recombinant vectors were constructed. The total RNA in 293T cells was extracted after the recombinant vectors were...

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Literature Corpus work
42b986a8-d771-5868-8d9d-7f1bbb5f663e
DOI
10.1101/2021.02.19.432054
Open publication

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Determining the pathogenicity of MUT gene variant by mini-gene splicing assayDOI 10.1101/2021.02.19.432054
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