GeneticsbioRxivPreprint
Determining the pathogenicity of MUT gene variant by mini-gene splicing assay
Yanyun Wang, Yun Sun, Tao Jiang
The paper uses a mini-gene splicing assay to evaluate the pathogenicity of 12 MUT/MMUT gene variants, confirming three as pathogenic and nine as non-pathogenic.
DOI 10.1101/2021.02.19.432054