https://www.selleckchem.com/pr....oducts/1-naphthyl-pp
Also, pathogenic mutations are more common in the pore-lining helix, consistent with this region being highly constrained for variation in control populations. CONCLUSION Our study reports a novel pathogenic variant in GABRA2, characterizes the regions where pathogenic mutations are in the transmembrane helices, and underscores the value of considering sequence, evolutionary, and structural information as a strategy for variant interpretation of novel missense mutations. © 2020 The Authors. Molecular Genetics
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