Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.V81E
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BBS9

NM_198428.3:p.V81E

Associated Papers

Novel biallelic variant in BBS9 causative of Bardet-Biedl syndrome: expanding the spectrum of disease-causing genetic alterations.

Suárez-González J et al.

Bmc Medical Genomics, 2021

BBS mutational analysis: a strategic approach.

Billingsley G et al.

Ophthalmic Genetics, 2011

21463199 (PubMed )
Supplement: supplement_1.pdf

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Muller J et al.

Human Genetics, 2010

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