ROBERT CABRERA to Loss of Function Mutation
This is a "connection" page, showing publications ROBERT CABRERA has written about Loss of Function Mutation.
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0.201
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CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression. J Med Genet. 2021 07; 58(7):484-494.
Score: 0.162
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Loss of RAD9B impairs early neural development and contributes to the risk for human spina bifida. Hum Mutat. 2020 04; 41(4):786-799.
Score: 0.039