Publications:

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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: rs735854

PubMed Link: 36564540

Variant Present in the following documents:

• 41598_2022_26850_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One

Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y

Publication Date: 2022

Variant appearance in text: rs735854

PubMed Link: 36350814

Variant Present in the following documents:

• pone.0276233.s004.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: rs735854

PubMed Link: 35864542

Variant Present in the following documents:

• 12920_2022_1315_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: MYH9: 5766-227A>G; rs735854

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

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Dense mapping of MYH9 localizes the strongest kidney disease associations to the region of introns 13 to 15.

Human Molecular Genetics

Nelson, George W GW; Freedman, Barry I BI; Bowden, Donald W DW; Langefeld, Carl D CD; An, Ping P; Hicks, Pamela J PJ; Bostrom, Meredith A MA; Johnson, Randall C RC; Kopp, Jeffrey B JB; Winkler, Cheryl A CA

Publication Date: 2010-05-01

Variant appearance in text: rs735854

PubMed Link: 20124285

Variant Present in the following documents:

• Main text

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The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family Study.

Human Genetics

Franceschini, Nora N; Voruganti, V Saroja VS; Haack, Karin K; Almasy, Laura L; Laston, Sandy S; Goring, Harald H H HH; Umans, Jason G JG; Lee, Elisa T ET; Best, Lyle G LG; Fabsitz, Richard R RR; MacCluer, Jean W JW; Howard, Barbara V BV; North, Kari E KE; Cole, Shelley A SA

Publication Date: 2010-03

Variant appearance in text: rs735854

PubMed Link: 19921264

Variant Present in the following documents:

• Main text

View BVdb publication page

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