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Response to "Letter to the editor" regarding "Rule out compound heterozygous exonic/deep intronic ABCA4 variants in an MNGIE patient with Stargardt disease".

Heng WangGechong RuanShan YangHui LiZixi SunBowen TianPengguang YanYue LiHong YangYong ZhongJiaming Qian
Published in: American journal of medical genetics. Part A (2023)
Keyphrases
  • case report
  • early onset
  • copy number
  • gene expression