Concepedia

Genetic epidemiology of malignant hyperthermia in the UK

Dorota Miller, C.L. Daly, E.M. Aboelsaod, Lois Gardner, S.J. Hobson, K. Riasat, Sarah Shepherd, Rachel L. Robinson, Jonathan G. Bilmen, Pawan Gupta,

British Journal of Anaesthesia · 2018 · 103 citations · 45 references

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References

45

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

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

, , +17

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text

, , +15

Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia

David H. MacLennan, Catherine Duff, Francesco Zorzato et al. · Nature · 1990 · 526 citations

, , +6

Structure of the voltage-gated calcium channel Cav1.1 at 3.6 Å resolution

Jianping Wu, Yan Zhen, Zhangqiang Li et al. · Nature · 2016 · 488 citations

, , +12

A PROTOCOL FOR THE INVESTIGATION OF MALIGNANT HYPERPYREXIA (MH) SUSCEPTIBILITY

British Journal of Anaesthesia · 1984 · 444 citations · Full text

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