Associated Papers
Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.
Nurelegne HT et al.
Molecular Genetics & Genomic Medicine, 2025
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
Sande CM et al.
The Journal of Clinical Investigation, 2025
40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf
Gene Variants Involved in Nonsense-Mediated mRNA Decay Suggest a Role in Autism Spectrum Disorder.
Marques AR et al.
Biomedicines, 2022
35327467 (PubMed )
Supplement: biomedicines-10-00665-s001.zip › Supplementary_tables.xlsx › Suppl_Table_S3
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