Publications:

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: COL4A5: 500C>A; Pro167Gln

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Novel deletion mutation in a Chinese family with X-linked alport syndrome.

International Journal Of Clinical And Experimental Pathology

Li, Yongzhen Y; He, Qingnan Q; Wang, Yanran Y; Wang, Ying Y; Dang, Xiqiang X; Wu, Xiaochuan X; Li, Xiaoyan X; Shuai, Lanjun L; Yi, Zhuwen Z

Publication Date: 2018

Variant appearance in text: COL4A5: Pro167Gln

PubMed Link: 31949866

Variant Present in the following documents:

• Main text

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A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.

Biomed Research International

Xiu, Xiaofei X; Yuan, Jinzhong J; Deng, Xiong X; Xiao, Jingjing J; Xu, Hongbo H; Zeng, Zhaoyang Z; Guan, Liping L; Xu, Fengping F; Deng, Sheng S

Publication Date: 2014

Variant appearance in text: COL4A5: Pro167Gln

PubMed Link: 25110662

Variant Present in the following documents:

• Main text
• BMRI2014-186048.pdf

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