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Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review — Europe PMC PMID:41153391

Source: Europe PMC (en)
Original: https://europepmc.org/article/MED/41153391
DOI: 10.3390/genes16101174
License (as archived): solo-consultazione
Archived: 2026-11-09T10:37:48.385Z
SHA-256 of the archived text: 13bec8821e63e906c7aec4300f4987362b8b12c44db4d5f7a23b29cff614f201
Stable URL of this page: https://metraipolis.com/documento/dc_727c71b00a66

How to cite

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review — Europe PMC PMID:41153391 — Europe PMC (en), https://europepmc.org/article/MED/41153391 (solo-consultazione); archived copy: https://metraipolis.com/documento/dc_727c71b00a66 (Metraipolis archive dc_727c71b00a66, sha256 13bec8821e63e906c7aec4300f4987362b8b12c44db4d5f7a23b29cff614f201)

BibTeX

@misc{dc727c71b00a66,
  title = {Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, 18FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review — Europe PMC PMID:41153391},
  howpublished = {Europe PMC (en)},
  url = {https://europepmc.org/article/MED/41153391},
  note = {License solo-consultazione; archived copy https://metraipolis.com/documento/dc_727c71b00a66; sha256 13bec8821e63e906c7aec4300f4987362b8b12c44db4d5f7a23b29cff614f201},
  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/41153391. Agents can read the archived copy with the MCP tool read_document.