Article

Developing Del2Phen: a novel phenotype description tool for chromosome deletions

2024-10-22

Abstract excerpt

Information on the health-related consequences of rare chromosome disorders is often limited, posing challenges for both patients and their families. The Chromosome 6 Project aims to bridge this knowledge gap for structural aberrations involving chromosome 6 by providing parents of affected children with information on the expected phenotypes of their child. To achieve this, detailed phenotype and genotype data is...

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Literature Corpus work: 466d20c4-f91c-5a27-8ea7-071655f0a106
DOI: 10.1101/2024.10.21.24315854

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