Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.L89fs
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BBS12

NM_152618.3:p.L89fs

Associated Papers

Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population.

Heutinck PAT et al.

Scientific Reports, 2025

Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet-Biedl Syndrome.

Dehghan R et al.

Case Reports in Ophthalmological Medicine, 2022

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