Associated Papers
Phenotypic Diversity Caused by the DES Missense Mutation p.R127P (c.380G>C) Contributing to Significant Cardiac Mortality and Morbidity Associated With a Desmin Filament Assembly Defect.
Ebrahim MA et al.
Circulation. Genomic and Precision Medicine, 2025
40265264 (PubMed )
Supplement: circcvg-2024-004896-s01.pdf
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result
Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.
Brandão KO et al.
Stem Cell Reports, 2020
33176122 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_4
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
Graham SE et al.
Nature Communications, 2019
31015462 (PubMed )
Supplement: 41467_2019_9861_MOESM1_ESM.pdf
From Single Variants to Protein Cascades: MULTISCALE MODELING OF SINGLE NUCLEOTIDE VARIANT SETS IN GENETIC DISORDERS.
Mueller SC et al.
The Journal of Biological Chemistry, 2016
Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C et al.
Embo Molecular Medicine, 2014
24972929 (PubMed )
Supplement: emmm0006-0937-SD4.pdf
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