Associated Papers
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A
Can Unlikely Neanderthal Chloride Channel CLC-2 Gene Variants Provide Insights in Modern Human Infertility?
Jeworutzki E et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2021
A novel loss-of-function mutation of PBK associated with human kidney stone disease.
Nettuwakul C et al.
Scientific Reports, 2020
32581305 (PubMed )
Supplement: 41598_2020_66936_MOESM1_ESM.pdf
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
Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy.
Klassen T et al.
Cell, 2011
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy.
Everett K et al.
Epilepsy Research, 2007
Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy.
D'Agostino D et al.
Neurology, 2004
Select a paper to view details