Article

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

2022-11-08

Abstract excerpt

<h4>Background</h4> Even with the introduction of new genetic techniques that enable accurate genomic characterization, knowledge about the phenotypic spectrum of rare chromosomal disorders is still limited, both in literature and existing databases. Yet this clinical information is of utmost importance for health professionals and the parents of children with rare diseases. Since existing databases are often hamp...

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Literature Corpus work: 49e25b24-5402-5fc6-acfb-0dbe29ac3187
DOI: 10.1101/2022.11.07.22282039

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