Associated Papers
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H et al.
Cell Reports Methods, 2024
38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Rare Variation in Drug Metabolism and Long QT Genes and the Genetic Susceptibility to Acquired Long QT Syndrome.
Gray B et al.
Circulation. Genomic and Precision Medicine, 2022
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S6.xlsx › Sheet1
Infantile hypertrophic pyloric stenosis in patients with esophageal atresia.
Ten Kate CA et al.
Birth Defects Research, 2020
Novel and functional norepinephrine transporter protein variants identified in attention-deficit hyperactivity disorder.
Hahn MK et al.
Neuropharmacology, 2009
No evidence of linkage or association between the norepinephrine transporter (NET) gene MnlI polymorphism and adult ADHD.
De Luca V et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2004
Haplotype architecture of the norepinephrine transporter gene SLC6A2 in four populations.
Belfer I et al.
Journal of Human Genetics, 2004
Norepinephrine transporter gene (NET) variants in patients with panic disorder.
Sand PG et al.
Neuroscience Letters, 2002
Pharmacological properties of naturally occurring variants of the human norepinephrine transporter.
Runkel F et al.
Pharmacogenetics, 2000
Tourette syndrome and the norepinephrine transporter gene: results of a systematic mutation screening.
Stöber G et al.
American Journal of Medical Genetics, 1999
Systematic search for variation in the human norepinephrine transporter gene: identification of five naturally occurring missense mutations and study of association with major psychiatric disorders.
Stöber G et al.
American Journal of Medical Genetics, 1996
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