Article
Updates on diagnostic criteria for hereditary haemorrhagic telangiectasia in the light of whole genome sequencing of 'gene-negative' individuals recruited to the 100 000 Genomes Project.
Journal of medical genetics - 19 Jan 2024
Shovlin Claire L, Almaghlouth Fatma I, Alsafi Ali, Coote Nicola, Rennie Catherine, Wallace Gillian Mf, Govani Fatima S, Research Consortium Genomics England
Abstract excerpt
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Topics
- Humans
- Telangiectasia, Hereditary Hemorrhagic
- Mutation
- Phenotype
- Whole Genome Sequencing