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...
Confused about the genetic screening for #MalignantHyperthermia? Get the quick-and-dirty answers in @asamonitor.bsky.social in this excellent article by Dr. Mashman of MHAUS and members of Deoxylytics. @asahq.bsky.social @apsf.org
https://buff.ly/3WPXu2u
