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📢 paper alert 📢 #epilepsy associaties RNU2-2 description by @christeldepienne.bsky.social @nickywhiffin.bsky.social -> recessive cases often include one de novo and one inherited variant -> complex architecture of non-coding RNU genes, many novel questions for the field #genetics #raredisease
2mo
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🧬Three papers newly published in Nature Genetics spotlight RNU2-2 as a major cause of recessive developmental and epileptic encephalopathies. Congratulations to all three teams! 👉 www.nature.com/articles/s41... 👉 www.nature.com/articles/s41... 👉 www.nature.com/articles/s41...
2mo
Analyses of snRNA genes in a French cohort of people with rare disorders, with validation through international collaboration, identify monoallelic and biallelic variants in RNU2-2 as frequent causes…
www.nature.com
Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies - Nature Genetics
European Society of Human Genetics