Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.P516T
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BBS9

NM_198428.3:p.P516T

Associated Papers

Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.

Veneziano C et al.

Frontiers in Endocrinology, 2025

41458559 (PubMed )
Supplement: Table4.xlsx › sheet1

Exome Sequencing of 21 Bardet-Biedl Syndrome (BBS) Genes to Identify Obesity Variants in 6,851 American Indians.

Day SE et al.

Obesity (silver Spring, Md.), 2021

33616283 (PubMed )
Supplement: OBY-29-748-s001.xlsx › Table_S2

In search of triallelism in Bardet-Biedl syndrome.

Abu-Safieh L et al.

European Journal of Human Genetics : Ejhg, 2012

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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."