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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8596334
Species: Homo sapiens
RGD Object: Variant
Symbol: CV19239
Name: NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
Acc ID: HP:0003155
Term: Elevated circulating alkaline phosphatase concentration
Definition: Abnormally increased serum levels of alkaline phosphatase activity.
Definition Source(s): https://orcid.org/0000-0002-0736-9199, PMID:29083622
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)
CV19239 IAGP 8554872ClinVarClinVar Annotator: match by term: Elevated alkaline phosphatase

PMID:14561495 PMID:17039978 PMID:17433678 PMID:18504680 PMID:18991200 PMID:19500985 PMID:20232219 PMID:20301711 PMID:25231362 PMID:25337607 PMID:25741868 PMID:26467025 PMID:27549087 PMID:28492532 PMID:31589614 PMID:32183277 PMID:32376792 PMID:33477664 PMID:35662277 PMID:36140714
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