Publications:

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Bmc Neurology

Zhang, Xiaoqian X; Zhang, Lei L; Wu, Yanqing Y; Li, Gang G; Chen, Shengcai S; Xia, Yuanpeng Y; Li, Hongge H

Publication Date: 2018-11-29

Variant appearance in text: rs2228071

PubMed Link: 30497413

Variant Present in the following documents:

• 12883_2018_1199_MOESM5_ESM.xlsx, sheet 1

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Genetic epidemiology of malignant hyperthermia in the UK.

British Journal Of Anaesthesia

Miller, D M DM; Daly, C C; Aboelsaod, E M EM; Gardner, L L; Hobson, S J SJ; Riasat, K K; Shepherd, S S; Robinson, R L RL; Bilmen, J G JG; Gupta, P K PK; Shaw, M-A MA; Hopkins, P M PM

Publication Date: 2018-10

Variant appearance in text: RYR1: 7089C>G; Cys2363Trp

PubMed Link: 30236257

Variant Present in the following documents:

• Main text

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs2228071

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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