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GO:0048701embryonic cranial skeleton morphogenesisPMID:7987400IMP: Inferred from Mutant Phenotype P
This annotation made on page: HUMAN:FGFR2
By: Boman002 (group We're too cool for a label) on 2011-12-11 21:28:06 CST.




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Entry TypeChallenging User,GroupTime/DateChallenge ReasonPoints/Assessment
Public
Assessment
Bmcintosh2011-12-22 16:47:46 CST

As much I would like to accept this annotation, Jim Hu and I have had an extensive discussion about the disease annotations like this one. I think it's an important paper to annotate, but "GO is about annotating the normal function of the gene product" as Jim pointed out. We have discussed how "IMPs in general have the problem of how to decide how to deal with direct vs indirect effects ... In the case of Tay-Sachs, I'm not an expert, but I believe human diseases like it define processes like GO:0006689 ! ganglioside catabolic process."


Unacceptable