Author

Sara Iolanda Oliveira da Silva

AC Camargo Hospital

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Anthony Vladimir Campos SeguraiD· 1 shared Dirce Maria CarraroiD· 1 shared Giovana Tardin TorrezaniD· 1 shared Karina Miranda SantiagoiD· 1 shared Rafael Canfield BrianeseiD· 1 shared

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2024-2024 · peak 1/yr

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5 top collaborators · 10 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Anthony Vladimir Campos SeguraORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintMar 26, 2024

Misclassification of a frequent loss of function variant from PMS2CL pseudogene as a PMS2 variant in Brazilian patients

Anthony Vladimir Campos Segura, Sara Iolanda Oliveira da Silva, Karina Miranda Santiago…·Giovana Tardin Torrezan

The paper identifies a frequent PMS2CL pseudogene variant misclassified as a PMS2 variant in Brazilian patients, highlighting diagnostic challenges in genetic testing.

DOI 10.1101/2024.03.26.24304914

humanwhole-exome sequencing

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