Author

Gönül Büyükyılmaz

ORCID 0000-0001-7888-7295Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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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

Keziban Toksoy AdıgüzeliD· 1 shared Mehmet BoyraziD· 1 shared Vehap TopçuiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

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3 top collaborators · 3 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Keziban Toksoy AdıgüzelORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 7, 2024

Expanding the mutational spectrum of GCK in Turkish pediatric population

Vehap Topçu, Gönül Büyükyılmaz, Keziban Toksoy Adıgüzel, Mehmet Boyraz

The paper identifies 28 distinct GCK variants in 43 Turkish pediatric patients with hyperglycemia, classifying 25 as likely pathogenic and 3 as variants of uncertain significance.

DOI 10.1101/2024.02.07.24302418

humanwhole-exome sequencing

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