Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.C265_N266del2
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BBS12

NM_152618.3:p.C265_N266del2

Associated Papers

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

Heutinck PAT et al.

Scientific Reports, 2025

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Vincke L et al.

Npj Genomic Medicine, 2025

40055385 (PubMed )
Supplement: 41525_2025_473_MOESM2_ESM.xlsx › Sheet1

Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.

Abolhassani A et al.

Npj Genomic Medicine, 2024

38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_2

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Bizzari S et al.

Genes, 2021

34680914 (PubMed )
Supplement: genes-12-01518-s001.zip › SupplementaryTableS3.xlsx › Sheet1
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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."