Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.L19R
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BBS12

NM_152618.3:p.L19R

Associated Papers

Whole-exome sequencing deciphers the genetic profile of visual impairments in patients from Southwest Iran.

Zamani M et al.

Molecular Genetics and Genomics : Mgg, 2022

Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.

Nikkhah E et al.

Cell Journal, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."