Relative Frequencies of <i>PAX6</i> Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome

Relative Frequencies of <i>PAX6</i> Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome

Genome-wide sequencing metadata allows researchers to infer bias in the relative frequencies of mutational events and to predict putative mutagenic models. In addition, much less data could be useful in the evaluation of the mutational frequency spectrum and the prevalent local mutagenic process. He...

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Bibliographic Details
Main Authors: Tatyana A. Vasilyeva, Andrey V. Marakhonov, Sergey I. Kutsev, Rena A. Zinchenko
Format: Article
Language:English
Published: MDPI AG 2022-06-01
Series:International Journal of Molecular Sciences
Subjects:
11p13
<i>PAX6</i>
de novo mutation
chromosome deletions
small indels
aniridia
Online Access:https://www.mdpi.com/1422-0067/23/12/6690

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