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GENE - TERM ANNOTATION REPORT

RGD ID: 1311417
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Col7a1
Name: collagen type VII alpha 1 chain
Acc ID: DOID:10907
Term: microcephaly
Definition: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
Definition Source(s): MESH:D008831
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.
QualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
 ISORGD:13228698554872ClinVarClinVar Annotator: match by term: Microcephaly

PMID:12787275, PMID:25741868, PMID:28492532
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.