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专题专栏

  • Exploring noncoding variants in genetic diseases: from detection to functional insights
  • PICOTEES: a privacy-preserving online service of phenotype exploration for genetic-diagnostic variants from Chinese children cohorts
  • Rare variants in FANCJ induce premature ovarian insufficiency in humans and mice
  • enOsCas12f1-mediated exon skipping for Duchenne muscular dystrophy therapy in humanized mouse model
  • GeMemiOM: the curated database on genes, putative methylation study targets, and microRNA targets for otitis media
  • Gene therapy for monogenic disorders: challenges, strategies, and perspectives
  • Unraveling the complexity of polycystic ovary syndrome with animal models
  • Current therapies for osteoarthritis and prospects of CRISPR-based genome, epigenome, and RNA editing in osteoarthritis treatment
  • CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy
  • Correction of a CADASIL point mutation using adenine base editors in hiPSCs and blood vessel organoids
  • The m6A reader YTHDC2 maintains visual function and retinal photoreceptor survival through modulating translation of PPEF2 and PDE6B
  • Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts
  • NCAD v1.0: a database for non-coding variant annotation and interpretation