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
High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.
Lattante S et al.
Genes, 2020
32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.
Witkiewicz AK et al.
Nature Communications, 2015
25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES
Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.
Sabatelli M et al.
Human Molecular Genetics, 2009
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