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Article

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Human genetics - 1 Dec 2024

Lopes-Marques Mónica, Peixoto M João, Cooper David N, Prata M João, Azevedo Luísa, Castro L Filipe C

Abstract excerpt

BACKGROUND: Over the past decade, variations of the coding portion of the human genome have become increasingly evident. In this study, we focus on polymorphic pseudogenes, a unique and relatively unexplored type of pseudogene whose inactivating mutations have not yet been fixed in the human genome at the global population level. Thus, polymorphic pseudogenes are characterized by the presence in the population of...

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Identifiers

PMID: 39488654
DOI: 10.1007/s00439-024-02715-9
PMCID: PMC11576641

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