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Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population

Crossref DOI link: https://doi.org/10.1038/s41598-025-17881-7

Published Online: 2025-10-03

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Guan, Yiwen

Huang, Mary

Macrae, Finlay

Yin, Xiaoyu

Plazzer, John-Paul

Savige, Judy
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Text and Data Mining valid from 2025-10-03

Version of Record valid from 2025-10-03
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Article History

Received: 28 February 2025

Accepted: 28 August 2025

First Online: 3 October 2025

Declarations

:

: The authors declare no competing interests.

: This was a secondary analysis of the anonymised sequencing data publicly available in gnomAD v.2.1.1. Participants in gnomAD had provided written informed consent to ongoing use of their data at recruitment into the original studies.

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