Associated Papers
Computational insights into PKCθ non-synonymous SNPs: from structural changes to functional implications.
Hafeez A et al.
Journal of Biomolecular Structure & Dynamics, 2025
40847819 (PubMed )
Supplement: supplement_1.zip › supplementary_file_S_table_S3.xlsx › Cosmic_nsSNPs
Association of the E23K (rs5219) polymorphism in the potassium channel (KCNJ11) gene with diabetic neuropathy in type 2 diabetes.
Elzehery R et al.
Gene, 2024
Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.
Sutherland HG et al.
Cells, 2020
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1164.429
Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.
Huguet G et al.
Plos One, 2014
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