Eric C. Beyer to Mutation, Missense
This is a "connection" page, showing publications Eric C. Beyer has written about Mutation, Missense.
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The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse Lenses. J Biol Chem. 2016 08 19; 291(34):17569-78.
Score: 0.505
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Characterization of a variant of gap junction protein a8 identified in a family with hereditary cataract. PLoS One. 2017; 12(8):e0183438.
Score: 0.137
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An MIP/AQP0 mutation with impaired trafficking and function underlies an autosomal dominant congenital lamellar cataract. Exp Eye Res. 2013 May; 110:136-41.
Score: 0.098
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Molecular mechanisms underlying enhanced hemichannel function of a cataract-associated Cx50 mutant. Biophys J. 2021 12 21; 120(24):5644-5656.
Score: 0.046
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Molecular mechanism underlying a Cx50-linked congenital cataract. Am J Physiol. 1999 06; 276(6):C1443-6.
Score: 0.010