Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.V260G
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BBS9

NM_198428.3:p.V260G

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

Retinitis Pigmentosa Associated with Bardet-Biedl Syndrome with BBS9 Gene Mutation in a Korean Patient.

Kim YH et al.

Korean Journal of Ophthalmology : Kjo, 2020

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Kim MS et al.

Journal of Korean Medical Science, 2019

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