Human Gene Set: HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS


Standard name HP_CENTRALLY_NUCLEATED_SKELETAL_MUSCLE_FIBERS
Systematic name M36374
Brief description Centrally nucleated skeletal muscle fibers
Full description or abstract An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). [https://orcid.org/0000-0002-0736-9199, PMID:20181480]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0003687
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0003687
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace		 Human_NCBI_Gene_ID
Dataset references  
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GTEx compendium
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NCI-60 cell lines (National Cancer Institute)
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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