Top Tweets for #smarcc2
Happy we @hug_leipzig could contribute a bit to the #SMARCC2 cohort paper in @GIMJournal lead by @the_elbo & @berntpopp et al. Big cohort w/ 60+ patients helps in further understanding BAFopathies… 👏 👇
https://t.co/TG2U3RoGxo
Non-truncating variants and likely gene disrupting variants in #SMARCC2 produce two distinct phenotypes #Neurodevelopmental disorder #raredisease #variantclassification @the_elbo @berntpopp https://t.co/faJ7SZRQ68

New today: international collaboration involving several UDN investigators identifies a novel SMARCC2-related neurodevelopmental disorder https://t.co/5uH8uFQzt3 @AJHGNews #RareDisease #SMARCC2
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