Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia von Schiemann, A.H., Stowell, K.M.

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RYR1 variant c.38T>G, p.Leu13Arg causes hypersensitivity of the ryanodine receptor-1 and is pathogenic for malignant hyperthermia von van den Bersselaar, L.R., Greven, T., Bulger, T., Voermans, N.C., van Petegem, F., Schiemann, A.H., Parker, R., Burling, S.M., Jungbluth, H., Stowell, K.M., Kamsteeg, E.J., Snoeck, M.M.J.

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A genetic mystery in malignant hyperthermia ‘solved’? von Schiemann, A.H., Bjorksten, A.R., Gillies, R.L., Hockey, B.M., Ball, C., Pollock, N., Bulger, T., Stowell, K.M.

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Sequence capture and massively parallel sequencing to detect mutations associated with malignant hyperthermia von Schiemann, A.H., Dürholt, E.M., Pollock, N., Stowell, K.M.

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Sequence diversity and functional conservation of the origin of replication in lactococcal prolate phages von Rakonjac, J, Ward, L.J.H, Schiemann, A.H, Gardner, P.P, Lubbers, M.W, O'Toole, P.W

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