Associated Papers
Estimating the Prevalence of Autosomal Recessive Neuromuscular Diseases in the Korean Population.
Kim SH et al.
Journal of Korean Medical Science, 2025
Impaired gating of γ- and ε-AChR respectively causes Escobar syndrome and fast-channel myasthenia.
Shen XM et al.
Annals of Clinical and Translational Neurology, 2023
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
Kim MJ et al.
Frontiers in Genetics, 2022
Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.
Pandey A et al.
Nature Communications, 2020
32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM8_ESM.xlsx › GBC_Cell_LIne_Mutations
CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.
Carrera-García L et al.
American Journal of Medical Genetics. Part A, 2019
Utilization of Whole Exome Sequencing in Lethal Form of Multiple Pterygium Syndrome: Identification of Mutations in Embryonal Subunit of Acetylcholine Receptor.
Nazari T et al.
International Journal of Molecular and Cellular Medicine, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.
Seo J et al.
Journal of Human Genetics, 2015
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