RT @S_Delafontaine: 2/ 🤔What do we know about COPA syndrome thus far❓Mutations in the N-terminal WD40 domain of COPA, discovered since 2015…
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2/ 🤔What do we know about COPA syndrome thus far❓Mutations in the N-terminal WD40 domain of COPA, discovered since 2015 (https://t.co/bq0bT5tbTT), cause a type I interferonopathy (https://t.co/xnNwt3wyRn), characterized by a triad of alveolar hemorrhage, a
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RT @UCSFDOM: 7/ Special shout-out to @UCSFHospitals @UCSFPCCMFellows faculty member Dr. Tony Shum who has done research on the COPA syndrom…
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7/ Special shout-out to @UCSFHospitals @UCSFPCCMFellows faculty member Dr. Tony Shum who has done research on the COPA syndrome published in @NatureGenet: https://t.co/SjaNOyTzuV "This is a testimony to patients & optimism" re: evaluating genetic cau