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Article

Variants of uncertain significance in prenatal microarrays: a retrospective cohort study.

BJOG : an international journal of obstetrics and gynaecology - 1 Jan 2021

Mardy A H, Wiita A P, Wayman B V, Drexler K, Sparks T N, Norton M E

Abstract excerpt

OBJECTIVE: To categorise the variants of uncertain significance found with prenatal chromosomal microarray and determine the proportion of such variants that are associated with a well-known phenotype in order to establish how often they remain truly of uncertain significance. DESIGN: Retrospective cohort study. SETTING: The University of California, San Francisco. POPULATION: All patients with a variant of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32702189
DOI: 10.1111/1471-0528.16427
PMCID: PMC7856034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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