1417025
type: Document
doi: 10.1038/s41431-025-01995-7
created: 2026-07-31T12:25:48.992Z
issued: 2026-01-26
modified: 2026-07-31T12:25:48.992Z
title: Expanding the genetic landscape of inherited metabolic diseases using long-read sequencing and transcriptomic profiling
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  arg_2000029: 1417025
  type: Individual
  has URL:
    type: URL
    url: http://doi.org/10.1038/s41431-025-01995-7
type: AcademicArticle
has publication venue:
  title: European Journal Of Human Genetics
  type: Collection
  publication venue for: 1417025
related by: Authorship
  type: Relationship