Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.K225insFs
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BBS7

NM_176824.3:p.K225insFs

Associated Papers

Next-generation sequencing identified novel truncating mutations in BBS9 causing Bardet Biedl syndrome in two Iranian consanguineous families.

Akbaroghli S et al.

Iranian Journal of Child Neurology, 2022

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