Assertion: abetalipoproteinemia | /r/HasProperty | r46g
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Source sentences:
text: Three missense mutations in the N-terminal region have been identified in patients with abetalipoproteinemia (R46G, G264R, and H297Q); however, they seem to be silent mutations or polymorphisms.25,32,33 G264R and H297Q were reported in 2 different compound heterozygotes; however, mutagenesis of these amino acids did not affect function.24,25,28 Functional effects of R46G have not been investigated.