Associated Papers
Germline PARN Variants in Telomere Biology Disorders and Challenges in Variant Curation.
Nurelegne HT et al.
Molecular Genetics & Genomic Medicine, 2025
40438983 (PubMed )
Supplement: MGG3-13-e70107-s002.xlsx › CONSOLIDATED
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites.
Vořechovský I
Journal of Human Genetics, 2025
A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.
Villeneuve J et al.
American Journal of Respiratory Cell and Molecular Biology, 2024
Exonic splicing code and coordination of divalent metals in proteins.
Bakhtiar D et al.
Nucleic Acids Research, 2024
38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.pdf
The Genetic Landscape of Familial Pulmonary Fibrosis.
Liu Q et al.
American Journal of Respiratory and Critical Care Medicine, 2023
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