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: HP: 15A>G

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

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A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.

Bmc Medical Genomics

Li, Qiong Q; Wang, Shujuan S; Liang, Pengfei P; Li, Wei W; Wang, Jian J; Fan, Bei B; Yang, Yang Y; An, Xiaogang X; Chen, Jun J; Zha, Dingjun D

Publication Date: 2022-07-21

Variant appearance in text: HP: 15A>G

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

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Association between reduced white matter integrity in the corpus callosum and serotonin transporter gene DNA methylation in medication-naive patients with major depressive disorder.

Translational Psychiatry

Won, E E; Choi, S S; Kang, J J; Kim, A A; Han, K-M KM; Chang, H S HS; Tae, W S WS; Son, K R KR; Joe, S-H SH; Lee, M-S MS; Ham, B-J BJ

Publication Date: 2016-08-09

Variant appearance in text: HP: G5=

PubMed Link: 27505229

Variant Present in the following documents:

• Main text

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Characterization of a novel large deletion caused by double-stranded breaks in 6-bp microhomologous sequences of intron 11 and 12 of the F13A1 gene.

Human Genome Variation

Thomas, Anne A; Ivaškevičius, Vytautas V; Zawadzki, Christophe C; Goudemand, Jenny J; Biswas, Arijit A; Oldenburg, Johannes J

Publication Date: 2016

Variant appearance in text: HP: g5=

PubMed Link: 27081562

Variant Present in the following documents:

• hgv201559.pdf

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