Publications:

Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.

Frontiers In Genetics

Dallali, Hamza H; Kheriji, Nadia N; Kammoun, Wafa W; Mrad, Mehdi M; Soltani, Manel M; Trabelsi, Hajer H; Hamdi, Walid W; Bahlous, Afef A; Ben Ahmed, Melika M; Mahjoub, Faten F; Jamoussi, Henda H; Abdelhak, Sonia S; Kefi, Rym R

Publication Date: 2021

Variant appearance in text: BBS: 137A>G

PubMed Link: 34691137

Variant Present in the following documents:

• Main text
• fgene-12-664963.pdf

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Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

American Journal Of Human Genetics

Lindstrand, Anna A; Frangakis, Stephan S; Carvalho, Claudia M B CM; Richardson, Ellen B EB; McFadden, Kelsey A KA; Willer, Jason R JR; Pehlivan, Davut D; Liu, Pengfei P; Pediaditakis, Igor L IL; Sabo, Aniko A; Lewis, Richard Alan RA; Banin, Eyal E; Lupski, James R JR; Davis, Erica E EE; Katsanis, Nicholas N

Publication Date: 2016-08-04

Variant appearance in text: BBS: 137A>G

PubMed Link: 27486776

Variant Present in the following documents:

• Main text

View BVdb publication page