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1. 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.

Author

Shovlin CL, Almaghlouth FI, Alsafi A, Coote N, Rennie C, Wallace GM, Govani FS, and Research Consortium GE

Subjects
Humans, Mutation, Phenotype, Whole Genome Sequencing, Telangiectasia, Hereditary Hemorrhagic diagnosis, Telangiectasia, Hereditary Hemorrhagic genetics
Abstract

Competing Interests: Competing interests: None declared.

Published
2024
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