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

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...

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Vydáno v:BJOG
Hlavní autoři: Mardy, AH, Wiita, AP, Wayman, BV, Drexler, K, Sparks, TN, Norton, ME
Médium: Artigo
Jazyk:Inglês
Vydáno: 2020
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7856034/
https://ncbi.nlm.nih.gov/pubmed/32702189
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/1471-0528.16427
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