Login / Signup

Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.

Zhiying XieChang LiuHaiyan YuZhihao XieChengyue SunYing ZhuXiaoyu HuLi BaiLuhua WeiPeng SunYanyu LuYunlong LuYawen ZhaoWei ZhangZhaoxia WangLingchao MengYun Yuan
Published in: Orphanet journal of rare diseases (2024)
Our study highlights the importance of muscle biopsy and aberrant splicing for clinical and genetic interpretation of uncertain DMD missense variants.
Keyphrases
  • copy number
  • duchenne muscular dystrophy
  • intellectual disability
  • genome wide
  • skeletal muscle
  • binding protein
  • muscular dystrophy
  • gene expression
  • dna methylation
  • autism spectrum disorder
  • amino acid