Associated Papers
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S et al.
Journal of Medical Genetics, 2022
35764379 (PubMed )
Supplement: jmedgenet-2022-108476supp001.pdf
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.
Deveault C et al.
Human Mutation, 2011
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