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Exome sequencing reanalysis identifies a novel likely pathogenic CFAP54 variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia — Europe PMC PMID:41393159

Source: Europe PMC (en)
Original: https://europepmc.org/article/MED/41393159
DOI: 10.3389/fmed.2025.1712038
License (as archived): solo-consultazione
Archived: 2026-11-08T04:52:25.858Z
SHA-256 of the archived text: d347fca61b9d567ea5bf716d525fa2374d0a3420837420d8b74bdefa06b6f782
Stable URL of this page: https://metraipolis.com/documento/dc_ca8a37ab9e89

How to cite

Exome sequencing reanalysis identifies a novel likely pathogenic CFAP54 variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia — Europe PMC PMID:41393159 — Europe PMC (en), https://europepmc.org/article/MED/41393159 (solo-consultazione); archived copy: https://metraipolis.com/documento/dc_ca8a37ab9e89 (Metraipolis archive dc_ca8a37ab9e89, sha256 d347fca61b9d567ea5bf716d525fa2374d0a3420837420d8b74bdefa06b6f782)

BibTeX

@misc{dcca8a37ab9e89,
  title = {Exome sequencing reanalysis identifies a novel likely pathogenic CFAP54 variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia — Europe PMC PMID:41393159},
  howpublished = {Europe PMC (en)},
  url = {https://europepmc.org/article/MED/41393159},
  note = {License solo-consultazione; archived copy https://metraipolis.com/documento/dc_ca8a37ab9e89; sha256 d347fca61b9d567ea5bf716d525fa2374d0a3420837420d8b74bdefa06b6f782},
  year = {2026}
}

Archived text

The text is not reproduced here: the archive holds it as solo-consultazione (consultation only, no republication). Read it at the original source: https://europepmc.org/article/MED/41393159. Agents can read the archived copy with the MCP tool read_document.