Infantile‐onset CMT2D/dSMA‐V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1846
Abstract: Both Charcot‐Marie‐Tooth disease type 2D (CMT2D) and distal spinal muscular atrophy type V (dSMA‐V) are GARS1 disease phenotypes involving axonal peripheral neuropathy. Patients often develop clinical symptoms in their teens. Herein, we reported a Chinese… read more here.
Keywords: onset cmt2d; cmt2d dsma; infantile onset; gars1 ... See more keywords
Digital soil mapping and assessment for Australia and beyond: A propitious future
Sign Up to like & getrecommendations! Published in 2021 at "Geoderma Regional"
DOI: 10.1016/j.geodrs.2021.e00359
Abstract: Abstract Digital Soil Mapping and Assessment (DSMA) has progressed from challenging traditional soil science paradigms, through small scale prototyping, to large-scale implementation capturing quantitative measures of soil attributes and functions. This paper considers the future… read more here.
Keywords: digital soil; soil; mapping assessment; dsma ... See more keywords