Varaico: Literature-Extracted Genetic Variants

Gene:BBS7
Variant:p.L580_K582del3
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BBS7

NM_176824.3:p.L580_K582del3

Associated Papers

A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.

Ullah M et al.

Npj Genomic Medicine, 2025

40180963 (PubMed )
Supplement: 41525_2025_488_MOESM2_ESM.xlsx › Sheet1

Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees.

Rao AR et al.

Genes, 2023

36833331 (PubMed )
Supplement: genes-14-00404-s001.zip › Supplementary_Table_S3.pdf
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