Associated Papers
Interrogating Mutant Allele Expression via Customized Reference Genomes to Define Influential Cancer Mutations.
Grant AD et al.
Scientific Reports, 2019
31484939 (PubMed )
Supplement: 41598_2019_48967_MOESM2_ESM.xls › Supplementary_Variant_File
A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.
Sher M et al.
The International Journal of Neuroscience, 2019
30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
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
Exomic sequencing of the ionotropic glutamate receptor N-methyl-D-aspartate 3A gene (GRIN3A) reveals no association with schizophrenia.
Shen YC et al.
Schizophrenia Research, 2009
Genetic variations of the NR3A subunit of the NMDA receptor modulate prefrontal cerebral activity in humans.
Gallinat J et al.
Journal of Cognitive Neuroscience, 2007
The relationship between the pharmacology of antiepileptic drugs and human gene variation: an overview.
Ferraro TN et al.
Epilepsy & Behavior : E&b, 2005
Novel genetic variants potentially associated with the pathogenesis of coronary artery aneurysm: whole-exome sequencing analysis.
Iwańczyk S et al.
Hellenic Journal of Cardiology : Hjc = Hellenike Kardiologike Epitheorese, 0
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