drezboston.bsky.social
🇦🇷🇺🇲 Trying to navigate the craziness. Neurofibromatosis/Schwanomatosis advocate & Patient Representative. Sarcoma Survivor.
👤 Joined on 09 October 2023
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Most NF1 missense variants come back as "uncertain." 84.8% of them in ClinVar are VUS — meaning many people with suspected neurofibromatosis get no clear genetic answer. We worked on a way to cut through that. 🧬 New, open access in Human Genomics 👇
Show PostMost NF1 missense variants come back as "uncertain." 84.8% of them in ClinVar are VUS — meaning many people with suspected neurofibromatosis get no clear genetic answer. We worked on a way to cut through that. 🧬 New, open access in Human Genomics 👇
Show Post@nfbot.bsky.social www.sap.org.ar/docs/publica... Para los hispanoparlantes que quieren información sobre neurofibromatosis miren esta publicación.
Show PostKnock knock, who's there? 🚪 Michelob ULTRA Superior Player of the Match! #NEvCLB
Show PostDubbed “the nation’s largest pantless party,” Cupid’s Undie Run raises awareness of neurofibromatosis.
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