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GENE - TERM ANNOTATION REPORT

RGD ID: 1318916
Species: Homo sapiens
RGD Object: Gene
Symbol: DHX30
Name: DExH-box helicase 30
Acc ID: HP:0008936
Term: Axial hypotonia
Definition: Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Definition Source(s): https://orcid.org/0000-0002-0736-9199
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
DHX30 IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Low muscle tone in trunk

PMID:28327206 PMID:29100085 PMID:32581362
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