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VARIANT - TERM ANNOTATION REPORT

RGD ID: 10397672
Species: Homo sapiens
RGD Object: Variant
Symbol: CV203766
Name: NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu)
Acc ID: HP:0001999
Term: Abnormal facial shape
Definition: An abnormal morphology (form) of the face or its components.
Definition Source(s): https://orcid.org/0000-0002-9602-2321
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)
CV203766 IAGP 8554872ClinVarClinVar Annotator: match by term: Dysmorphic facies

PMID:25533962 PMID:25741868 PMID:28492532 PMID:28867141 PMID:35104249
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