Publications:

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: 1814C>G

PubMed Link: 36803942

Variant Present in the following documents:

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

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Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.

Bmc Medical Genomics

Ma, Dae Joong DJ; Lee, Hyun-Seob HS; Kim, Kwangsoo K; Choi, Seongmin S; Jang, Insoon I; Cho, Seo-Ho SH; Yoon, Chang Ki CK; Lee, Eun Kyoung EK; Yu, Hyeong Gon HG

Publication Date: 2021-03-10

Variant appearance in text: BBS2: S605X

PubMed Link: 33691693

Variant Present in the following documents:

• 12920_2021_874_MOESM1_ESM.xlsx, sheet 1

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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: 1814C>G

PubMed Link: 25999675

Variant Present in the following documents:

• Main text

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