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Search results (6)

« Back to Publications

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.

Chen Y. et al, (2024), Nature, 632, 832 - 840

Modulation of prion protein expression through cryptic splice site manipulation.

Gentile JE. et al, (2024), J Biol Chem, 300

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease.

Martin-Geary AC. et al, (2023), medRxiv

MTR3D: identifying regions within protein tertiary structures under purifying selection.

Silk M. et al, (2021), Nucleic Acids Res, 49, W438 - W445

Correction: Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource.

Portelli S. et al, (2021), Nat Genet, 53

Exploring the structural distribution of genetic variation in SARS-CoV-2 with the COVID-3D online resource.

Portelli S. et al, (2020), Nat Genet, 52, 999 - 1001