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GENE - TERM ANNOTATION REPORT

RGD ID: 9033008
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Ltbp4
Name: latent transforming growth factor beta binding protein 4
Acc ID: DOID:0070139
Term: autosomal recessive cutis laxa type IC
Definition: A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/19836010 "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.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Ltbp4 ISOLTBP4 (Homo sapiens)7240710OMIM  
Ltbp4 ISOLTBP4 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities | ClinVar Annotator: match by term: Cutis laxa, autosomal recessive, type ICPMID:16199547 PMID:19836010 PMID:22829427 PMID:24033266 PMID:25741868 PMID:25741905 PMID:25882708 PMID:28492532 PMID:31115174 PMID:35972031
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