Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia
about
Assessment of in silico protein sequence analysis in the clinical classification of variants in cancer risk genesDevelopment of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review.Malignant Hyperthermia in the Post-Genomics Era: New Perspectives on an Old Concept.Rhabdomyolysis and fluctuating asymptomatic hyperCKemia associated with CACNA1S variant.Assessing predictions of fitness effects of missense mutations in SUMO-conjugating enzyme UBE2I.Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
P2860
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P2860
Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Comparison of pathogenicity pr ...... ed with malignant hyperthermia
@en
Comparison of pathogenicity pr ...... d with malignant hyperthermia.
@nl
type
label
Comparison of pathogenicity pr ...... ed with malignant hyperthermia
@en
Comparison of pathogenicity pr ...... d with malignant hyperthermia.
@nl
prefLabel
Comparison of pathogenicity pr ...... ed with malignant hyperthermia
@en
Comparison of pathogenicity pr ...... d with malignant hyperthermia.
@nl
P2860
P356
P1476
Comparison of pathogenicity pr ...... ed with malignant hyperthermia
@en
P2093
K M Stowell
P2860
P304
P356
10.1093/BJA/AEW065
P407
P577
2016-05-04T00:00:00Z