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Article

Universal Presence of Gene/Variant Nomenclature Errors in Journal Manuscript Submissions.

Clinical chemistry - 3 Jun 2026

Lansdon Lisa A, Porath Binu, Mori Mari, Miller David T, Dunham Drexler Diane, Wattenberg Catherine, Richardson Morgan, Steiner Robert D, Freeman Peter J

Abstract excerpt

BACKGROUND: Accurate descriptions of human genomic variants are crucial for gene-disease association, discovery, and clinical diagnosis. Although standardized genomic nomenclature, expertly curated and promulgated by the Human Genome Variation Society and the International Standing Committee on Human Cytogenomic Nomenclature, is strongly encouraged in scientific publications, many journals lack systematic...

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PMID: 41793390
DOI: 10.1093/clinchem/hvag010

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