Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.T364delFs
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BBS12

NM_152618.3:p.T364delFs

Associated Papers

Prevalence of genetic causes of obesity in clinical practice.

Tamaroff J et al.

Obesity Science & Practice, 2023

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_3

Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.

Kaseniit KE et al.

Clinical Genetics, 2019

31170325 (PubMed )
Supplement: CGE-96-236-s003.pdf

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Stoetzel C et al.

American Journal of Human Genetics, 2007

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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."