#RYR1 hashtag - Bluesky

@bjajournals.bsky.social

1 month ago

Using #functionalanalysis, Schiemann et al. found additional #RYR1 disease-associated variants that can be used diagnostically for #malignanthyperthermia sensitivity by DNA sequencing

www.bjanaesthesia.org/article/S0007-0912(25)00...

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Above Sigingstone Flights

@flights.sigingstone.uk

6 months ago

Map of aircraft tracking above Sigingstone

RYR1: 0.6miles away @ 21150ft, heading N @ 394.7mi/h, -1664 ft/min, at 11:06:39UK #RYR1 View_on_FR24 #UpInTheClouds #MovingQuickly #AboveSigingstone #ADSB

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Mohamed Wafik

@mo-wafik.bsky.social

10 months ago

#ESHG2025

Lovely talk from Dr. Susan Treves exploring how we identify and assess RYR1 variants, and use experimental tools to resolve variants of uncertain significance (VUS) in RYR1-related muscle disorders.

#Neuromuscular #Genetics #RYR1

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