Publications:

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Joubert syndrome: Molecular basis and treatment.

Journal Of Mother And Child

Spahiu, Lidvana L; Behluli, Emir E; Grajçevci-Uka, Violeta V; Liehr, Thomas T; Temaj, Gazmend G

Publication Date: 2022-03-01

Variant appearance in text: BBS: 2107C>T

PubMed Link: 36803942

Variant Present in the following documents:

• Main text
• jmotherandchild-26-1-jmotherandchild.20222601.d-22-00034.pdf

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Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology

Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X

Publication Date: 2023

Variant appearance in text: BBS2: R703*; rs567573386

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: BBS2: R703*

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: BBS2: 2107C>T; Arg703*; rs567573386

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology

Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M

Publication Date: 2020-01-07

Variant appearance in text: BBS2: R703*

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM13_ESM.xlsx, sheet 1

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Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics

Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM

Publication Date: 2019-10

Variant appearance in text: BBS2: 2107C>T; Arg703*; rs567573386

PubMed Link: 31589614

Variant Present in the following documents:

• pgen.1008409.s001.xlsx, sheet 1

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Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Molecular Genetics & Genomic Medicine

Hauser, Natalie S NS; Solomon, Benjamin D BD; Vilboux, Thierry T; Khromykh, Alina A; Baveja, Rajiv R; Bodian, Dale L DL

Publication Date: 2018-03

Variant appearance in text: BBS2: R703X

PubMed Link: 29368431

Variant Present in the following documents:

• MGG3-6-200-s002.xlsx, sheet 2

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Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

Molecular Vision

Xu, Yan Y; Guan, Liping L; Xiao, Xueshan X; Zhang, Jianguo J; Li, Shiqiang S; Jiang, Hui H; Jia, Xiaoyun X; Yang, Jianhua J; Guo, Xiangming X; Yin, Ye Y; Wang, Jun J; Zhang, Qingjiong Q

Publication Date: 2015

Variant appearance in text: BBS2: 2107C>T

PubMed Link: 25999675

Variant Present in the following documents:

• Main text
• mv-v21-477.pdf

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