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Year | Number of Results |
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2009 | 1 |
2012 | 1 |
2013 | 1 |
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Impaired gating of an L-Type Ca(2+) channel carrying a mutation linked to malignant hyperthermia.
Biophys J. 2013 May 7;104(9):1917-22. doi: 10.1016/j.bpj.2013.03.035.
Biophys J. 2013.
PMID: 23663834
Free PMC article.
The role of CACNA1S in predisposition to malignant hyperthermia.
Carpenter D, Ringrose C, Leo V, Morris A, Robinson RL, Halsall PJ, Hopkins PM, Shaw MA.
Carpenter D, et al.
BMC Med Genet. 2009 Oct 13;10:104. doi: 10.1186/1471-2350-10-104.
BMC Med Genet. 2009.
PMID: 19825159
Free PMC article.
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Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor.
Eltit JM, Bannister RA, Moua O, Altamirano F, Hopkins PM, Pessah IN, Molinski TF, López JR, Beam KG, Allen PD.
Eltit JM, et al.
Proc Natl Acad Sci U S A. 2012 May 15;109(20):7923-8. doi: 10.1073/pnas.1119207109. Epub 2012 Apr 30.
Proc Natl Acad Sci U S A. 2012.
PMID: 22547813
Free PMC article.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.
Richards S, et al.
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
Genet Med. 2015.
PMID: 25741868
Free PMC article.
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