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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9691650
Species: Homo sapiens
RGD Object: Variant
Symbol: CV175979
Name: NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)
Acc ID: DOID:0070234
Term: Loeys-Dietz syndrome 2
Definition: A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/15235604 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15731757 "DO" "DO"
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.
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