Associated Papers
Major Cardiac Events in Patients and Relatives With Hereditary Hypertrophic Cardiomyopathy.
Nielsen SK et al.
Jacc. Advances, 2023
38938358 (PubMed )
Supplement: mmc1.docx
Structural bioinformatics enhances mechanistic interpretation of genomic variation, demonstrated through the analyses of 935 distinct RAS family mutations.
Tripathi S et al.
Bioinformatics (oxford, England), 2021
33226070 (PubMed )
Supplement: btaa972_supplementary_data.zip › RAS_Manuscript_RMarkdown.tar.gz › RAS_Manuscript1.Revised › RAS_Variants_Scores.xlsx › Sheet1
Mutational spectrum in congenital dyserythropoietic anemia type II: identification of 19 novel variants in SEC23B gene.
Russo R et al.
American Journal of Hematology, 2010
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