Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.I70V
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BBS4

NM_033028.5:p.I70V

Associated Papers

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Turcot V et al.

Nature Genetics, 2018

29273807 (PubMed )
Supplement: NIHMS920811-supplement-2.xlsx › S22._MonogenicSyndromic_

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

Mykytyn K et al.

American Journal of Human Genetics, 2003

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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."