Publications:

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.

Scientific Reports

Zhao, Jing J; Zhang, Siqi S; Jiang, Yuan Y; Liu, Yan Y; Wang, Jiantao J; Zhu, QingWen Q

Publication Date: 2022-12-23

Variant appearance in text: FLNB: 4814G>A; Arg1605His; rs201630300

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1
• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 2

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Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

The Journal Of Biological Chemistry

Mitchell, Conor W CW; Czajewski, Ignacy I; van Aalten, Daan M F DMF

Publication Date: 2022-09

Variant appearance in text: FLNB: R1605H

PubMed Link: 35863433

Variant Present in the following documents:

• mmc4.xlsx, sheet 9

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Exome sequencing analysis identifies frequent oligogenic involvement and FLNB variants in adolescent idiopathic scoliosis.

Journal Of Medical Genetics

Jiang, Heng H; Liang, Shulun S; He, Kai K; Hu, Jinghua J; Xu, Enjie E; Lin, Tao T; Meng, Yichen Y; Zhao, Jianquan J; Ma, Jun J; Gao, Rui R; Wang, Ce C; Yang, Fu F; Zhou, Xuhui X

Publication Date: 2020-06

Variant appearance in text: FLNB: R1605H; rs201630300

PubMed Link: 32381728

Variant Present in the following documents:

• Main text
• jmedgenet-2019-106411.pdf

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