Associated Papers
Clinical, molecular, physiologic, and therapeutic feature of patients with CHRNA4 and CHRNB2 deficiency: A systematic review.
Jalaiei A et al.
Journal of Neurochemistry, 2025
Infantile onset encephalomyopathy, retinopathy, optic atrophy, and mitochondrial DNA depletion associated with a novel pathogenic DHX16 variant.
Hautakangas MR et al.
Clinical Genetics, 2023
Rare coding variants in CHRNB2 reduce the likelihood of smoking.
Rajagopal VM et al.
Nature Genetics, 2023
Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.
Diefenbach RJ et al.
Cancers, 2019
31795494 (PubMed )
Supplement: cancers-11-01905-s001.zip › cancers-620854-final-supplementary › cancers-620854-final-supplementary_-.xlsx › Table_S2
Incorporating epilepsy genetics into clinical practice: a 360°evaluation.
Oates S et al.
Npj Genomic Medicine, 2018
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
Fjaer R et al.
European Journal of Medical Genetics, 2015
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