Case report: myo5b homozygous variant c.2090+3a > t causes intron retention related to chronic cholestasis and diarrhea

HIGHLIGHTS

• who: RNA splicing et al. from the of Life Sciences, South University, Changsha, China have published the research: Case Report: MYO5B Homozygous Variant c.2090+3A > T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea, in the Journal: (JOURNAL) of March/24/2022
• what: The authors report a homozygous intronic variant, NM_001080467.2:c.2090+3A > T, which is located in the motor domain of MYO5B. The female patient under investigation in this study has had progressive cholestasis since birth. The study provides new evidence supporting the previous hypothesis of the genotypic-phenotypic spectrum . . .
  

   

  

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