Articles with "allelic variant" as a keyword



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Developmental and epileptic encephalopathy 89: A novel bi‐allelic variant, molecular dynamics simulation, and a comprehensive clinical and molecular profile

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Published in 2023 at "Epilepsia Open"

DOI: 10.1002/epi4.12739

Abstract: Gamma‐aminobutyric acid (GABA), the major inhibitory neurotransmitter in the adult central nervous system, plays an important role during embryonic neural network formation. GAD67 is the rate‐limiting enzyme in GABA synthesis, and its deficiency leads to… read more here.

Keywords: novel allelic; allelic variant; developmental epileptic; epileptic encephalopathy ... See more keywords
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An allelic variant of GAME9 determines its binding capacity with the GAME17 promoter in the regulation of steroidal glycoalkaloid biosynthesis in tomato

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Published in 2020 at "Journal of Experimental Botany"

DOI: 10.1093/jxb/eraa014

Abstract: An allelic variant of the transcription factor GAME9 reduces accumulation of toxic steroidal glycoalkaloids in ripe tomato fruit via altered binding to the promoter of a steroidal glycoalkaloid biosynthesis gene. read more here.

Keywords: promoter; glycoalkaloid biosynthesis; steroidal glycoalkaloid; allelic variant ... See more keywords