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[Here we describe a heterozygous dominant-negative missense mutation (codon 22 GGC?GTC; V22G) of the signaling adaptor protein Uncoordinated 119 (Unc119) in an ICL patient.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
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Gene-disease associations inferred from text-mining the literature.
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DisGeNET evidence - LITERATURE
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