Associated Papers
Expanding the phenotypic spectrum associated with CFAP43 mutations: a case report of familial male infertility with respiratory manifestations.
Awad F et al.
Frontiers in Reproductive Health, 2025
41341611 (PubMed )
Supplement: Datasheet1.xlsx › Patient_1
Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.
Ibrahim TAM et al.
Journal of Diabetes Research, 2025
41376825 (PubMed )
Supplement: 3346256.f1.pdf
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
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
Ewing AD et al.
American Journal of Medical Genetics. Part A, 2021
33960642 (PubMed )
Supplement: AJMG-185-2070-s002.xlsx › Table_S3_Hedgehog_gene_variants
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__
Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.
Lu X et al.
Nature Genetics, 2017
29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11
Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.
Rawal RM et al.
3 Biotech, 2015
28324520 (PubMed )
Supplement: 13205_2014_267_MOESM1_ESM.xlsx › WoH
Genetic studies of body mass index yield new insights for obesity biology.
Locke AE et al.
Nature, 2015
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AO-A03R-01A.domain
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A et al.
Plos One, 2013
23667635 (PubMed )
Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all
Mutational analysis of hedgehog signaling pathway genes in human malignant mesothelioma.
Lim CB et al.
Plos One, 2013
The FU gene and its possible protein isoforms.
Østerlund T et al.
Bmc Genomics, 2004
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