Autor: Ankur Chaurasia
-
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders
European Journal of Human Genetics, Published online: 27 June 2026; doi:10.1038/s41431-026-02158-ySystematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive diso…
-
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders
European Journal of Human Genetics, Published online: 27 June 2026; doi:10.1038/s41431-026-02158-ySystematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive diso…