Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Mass spectrometry-based targeted proteomics for analysis of protein mutations.
Lin TT et al.
Mass Spectrometry Reviews, 2023
The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.
Xiao Q et al.
Npj Genomic Medicine, 2021
34078906 (PubMed )
Supplement: 41525_2021_203_MOESM4_ESM.xlsx › Table_S3
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations.
Cortes-Urrea C et al.
Biomolecules, 2020
32365829 (PubMed )
Supplement: biomolecules-10-00698-s001.zip › Article-to-BIOMOLECULES_R1_v4Apr2020 › CortesUrreaetal_R1_Supp_Table_S2_339SNPs.xlsx › Tab_S2_339_SNPs_440_alterations
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype.
Zastrow DB et al.
Cold Spring Harbor Molecular Case Studies, 2017
28050602 (PubMed )
Supplement: supp_mcs.a001388_TableS1.xls › Clinical_Clinvar
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