Associated Papers
Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer.
Vlachavas EI et al.
Molecular Oncology, 2025
39876058 (PubMed )
Supplement: MOL2-19-1751-s006.xlsx › Sheet_1
Generation of induced pluripotent stem cells from an individual with early onset and severe hypertrophic cardiomyopathy linked to MYBPC3: c.772G > A mutation.
Ribeiro M et al.
Human Cell, 2024
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
Generation of human induced pluripotent stem cell lines derived from four patients with a pathogenic ALPK3 variant associated with adult-onset hypertrophic cardiomyopathy (HCM).
Cheawsamoot C et al.
Stem Cell Research, 2023
A novel compound heterozygous variant in ALPK3 induced hypertrophic cardiomyopathy: a case report.
Li T et al.
Frontiers in Cardiovascular Medicine, 2023
A Pathogenic Variant in ALPK3 Is Associated With an Autosomal Dominant Adult-onset Hypertrophic Cardiomyopathy.
Cheawsamoot C et al.
Circulation. Genomic and Precision Medicine, 2020
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