Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.
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DOI: 10.1093/hmg/ddz051
Abstract: Autism spectrum disorder (ASD) involves thousands of alleles in over 850 genes, but the current functional inference tools are not sufficient to predict phenotypic changes. As a result, the causal relationship of most of these… read more here.
Keywords: associated missense; genetic variants; missense; caenorhabditis elegans ... See more keywords
Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts
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DOI: 10.3390/ijms24032847
Abstract: The goal of this work was to elucidate the pathogenic mechanism of an ALS-associated missense mutation, p.Arg573Gly (R573G), in the TBK1 gene. In particular, we seek to analyze the influence of this variant on the… read more here.
Keywords: functional characterization; tbk1; familial als; characterization familial ... See more keywords