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GENE - TERM ANNOTATION REPORT

RGD ID: 14042144
Species: Sus scrofa
RGD Object: Gene
Symbol: TKTL1
Name: transketolase like 1
Acc ID: DOID:0050454
Term: periventricular nodular heterotopia
Definition: A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/periventricular-heterotopia "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)
TKTL1 ISOTKTL1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricularPMID:10480214 PMID:11748843 PMID:11968085 PMID:15689435 PMID:16080119 PMID:16427346 PMID:16601897 PMID:16684786 PMID:17546640 PMID:19396829 PMID:19846429 PMID:20730588 PMID:22281021 PMID:22382802 PMID:23409742 PMID:23660394 PMID:24098143 PMID:24365856 PMID:24962355 PMID:25817843 PMID:26471271 PMID:28492532 PMID:29334594 PMID:9384614
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