Yu Zheng Yuming Peng Shuju Zhang Hongmei Zhao Weijian Chen Yongjia Yang Zhengmao Hu Qiang Yin Yu Peng
10.3389/fgene.2022.872836
Front Genet
2022 May 30;13:872836.
myo5b rna splicing cholestasis diarrhea intron retention microvillus inclusion minigene assay
CC BY
https://pubmed.ncbi.nlm.nih.gov/35706451/
Case Reports
PMC9189387
35706451
Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea
2022