Associated Papers
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
BBS mutational analysis: a strategic approach.
Billingsley G et al.
Ophthalmic Genetics, 2011
21463199 (PubMed )
Supplement: supplement_1.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
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
Bin J et al.
Human Mutation, 2009
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