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Article

Mutation accumulation in H. sapiens F508del CFTR countermands dN/dS type genomic analysis.

PloS one - 1 Jan 2024

Hong Jeong S, Tindall Janice M, Tindall Samuel R, Sorscher Eric J

Abstract excerpt

Understanding the mechanisms that underlie de novo mutations (DNMs) can be essential for interpreting human evolution, including aspects such as rapidly diverging genes, conservation of non-coding regulatory elements, and somatic DNA adaptation, among others. DNM accumulation in Homo sapiens is often limited to evaluation of human trios or quads across a single generation. Moreover, human SNPs in exons,...

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PMID: 39024311
DOI: 10.1371/journal.pone.0305832
PMCID: PMC11257350

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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