Associated Papers
The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.
Wang LY et al.
Innovation (cambridge (mass.)), 2025
39991480 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms.
Isackson PJ et al.
Pharmacogenomics, 2018
RYR1-related myopathies: a wide spectrum of phenotypes throughout life.
Snoeck M et al.
European Journal of Neurology, 2015
Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.
Yu J et al.
Gut, 2015
24951259 (PubMed )
Supplement: gutjnl-2013-306620-s13.pdf
A double mutation of the ryanodine receptor type 1 gene in a malignant hyperthermia family with multiminicore myopathy.
Jeong SK et al.
Journal of Clinical Neurology (seoul, Korea), 2008
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