A synonymous variant contributes to a rare wiedemann-rautenstrauch syndrome complicated with mild anemia via affecting pre-mrna splicing

HIGHLIGHTS

• who: Wiedemann-Rautenstrauch syndrome and collaborators from the of Brescia, Italy have published the research: A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing, in the Journal: (JOURNAL)
• what: Rendered the resultant transcripts to be rapidly degraded by NMD.
• how: Sample collection This study was conducted in accordance with the Code of Ethics of the World Medical Association (Declaration of Helsinki) for experiments involving humans. The analysis of the WES data was carried out according to the previous reports (Lu et_al 2021 2022 . . .
  

   

  

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