Publications:

Ocular Characteristics of Patients With Bardet-Biedl Syndrome Caused by Pathogenic BBS Gene Variation in a Chinese Cohort.

Frontiers In Cell And Developmental Biology

Meng, Xiaohong X; Long, Yanling Y; Ren, Jiayun J; Wang, Gang G; Yin, Xin X; Li, Shiying S

Publication Date: 2021

Variant appearance in text: BBS: 563delT; rs1367927635

PubMed Link: 33777945

Variant Present in the following documents:

• Main text
• fcell-09-635216.pdf

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Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.

Molecular Genetics & Genomic Medicine

Dan, Handong H; Huang, Xin X; Xing, Yiqiao Y; Shen, Yin Y

Publication Date: 2020-03

Variant appearance in text: BBS2: 563delT; Ile188Thrfs*13

PubMed Link: 31960602

Variant Present in the following documents:

• Main text
• MGG3-8-e1131.pdf

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Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

Plos One

Xing, Dong-Jun DJ; Zhang, Hong-Xing HX; Huang, Na N; Wu, Kun-Chao KC; Huang, Xiu-Feng XF; Huang, Fang F; Tong, Yi Y; Pang, Chi-Pui CP; Qu, Jia J; Jin, Zi-Bing ZB

Publication Date: 2014

Variant appearance in text: BBS: 563delT

PubMed Link: 24608809

Variant Present in the following documents:

• Main text
• pone.0090599.pdf

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