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• W3017197162 endingPage "1141" @default.
• W3017197162 startingPage "1133" @default.
• W3017197162 abstract "In 1980, Eric Engel1 first proposed the concept of uniparental disomy (UPD), in which both homologous chromosomes are inherited from one parent, with no contribution (for that chromosome) from the other parent. In 1988, the first case of a Mendelian disorder associated with UPD was reported, in which a child with cystic fibrosis (MIM 219700) had inherited two copies of a pathogenic variant in CFTR (MIM 602421) from a heterozygous carrier mother, with no contribution from the biological father.2" @default.
• W3017197162 created "2020-04-24" @default.
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• W3017197162 date "2020-07-01" @default.
• W3017197162 modified "2023-10-14" @default.
• W3017197162 title "Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)" @default.
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• W3017197162 doi "https://doi.org/10.1038/s41436-020-0782-9" @default.
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