Author

Cristina Mazzaccara

CEINGE Biotecnologie Avanzate Franco Salvatore (Italy)ORCID 0000-0001-7774-2799Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Molecular Biology· 1

Signature Assays, Organisms & Methods

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Assay:DNA methylation· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Elías Herrero‐GalániD· 1 shared Giulia FrissoiD· 1 shared Jorge Alegre‐CebolladaiD· 1 shared Maria Angela LosiiD· 1 shared María Rosaria PricoloiD· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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5 top collaborators · 10 mutual co-author links

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1 shared paperMolecular Biology

Elías Herrero‐GalánORCID

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1 paper

Recent·Most cited

Molecular BiologyJournal of Cardiovascular Translational ResearchPeer-reviewedFeb 7, 2020

Thermodynamic destabilization informs pathogenicity assessment of a variant of uncertain significance in cardiac myosin binding protein C

María Rosaria Pricolo, Elías Herrero‐Galán, Cristina Mazzaccara…·Giulia Frisso

The paper assesses the pathogenicity of a variant of uncertain significance in MYBPC3 using bioinformatics and functional studies of protein stability.

21 citations

humanDNA methylation

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