Undiagnosed Diseases Network - UDN,
Check out the most recent UDN publication! Key takeaway: Dysregulation of glutamine synthetase (GS) due to #GLUL variants in…
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase
Overview of attention for article published in American Journal of Human Genetics, April 2024
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In the top 5% of all research outputs scored by Altmetric
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High Attention Score compared to outputs of the same age (94th percentile)
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Good Attention Score compared to outputs of the same age and source (77th percentile)
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