Molecular Characterization of a Familial 13.6-Mb 20p11.1p12.1 Duplication without Clinical Consequence
Sign Up to like & getrecommendations! Published in 2019 at "Cytogenetic and Genome Research"
DOI: 10.1159/000498904
Abstract: Chromosomal microarray (CMA) is currently considered as a first-tier test in the genetic assessment of patients presenting with intellectual disability and/or multiple congenital abnormalities. The distinction between pathogenic CNVs, polymorphisms, and variants of unknown significance… read more here.
Keywords: characterization familial; molecular characterization; duplication; 20p11 1p12 ... See more keywords
Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
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