Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.I330T
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BBS1

NM_024649.5:p.I330T

Associated Papers

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

Grudzinska Pechhacker MK et al.

Investigative Ophthalmology & Visual Science, 2021

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

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