Varaico: Literature-Extracted Genetic Variants

Gene:BBS2
Variant:p.M1insFs
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BBS2

NM_031885.5:p.M1insFs

Associated Papers

The genetic landscape of inherited eye disorders in 74 consecutive families from the United Arab Emirates.

Méjécase C et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

32783370 (PubMed )
Supplement: AJMG-184-762-s001.docx

Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.

Chen JH et al.

Molecular Genetics & Genomic Medicine, 2017

28717663 (PubMed )
Supplement: MGG3-5-390-s003.xlsx › Variant_Table
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