Author

Gabriela López‐Herrera

Secretaria de SaludORCID 0000-0002-5498-6739Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Andrew R. PattersoniD· 1 shared Diana Andrea Herrera-SáncheziD· 1 shared Edgar Alejandro Medina-TorresiD· 1 shared Eric R. GamazoniD· 1 shared Janet MarkleiD· 1 shared Jeffrey C. RathmelliD· 1 shared Meltem Ece KarsiD· 1 shared Michael J. BettiiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Andrew R. PattersonORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicineJournal of Clinical ImmunologyPeer-reviewedDec 4, 2024

Molecular and clinical characterization of a founder mutation causing G6PC3 deficiency

Xin Zhen, Michael J. Betti, Meltem Ece Kars…·Rubén Martínez‐Barricarte

This paper identifies a founder mutation in G6PC3 causing congenital neutropenia and shows it leads to loss of protein function and altered glycolysis.

4 citations

humanwhole-exome sequencing

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