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: 1769A>C; Lys590Thr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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The Evaluation of Genetic Diagnosis on High-Risk Fetal CAKUT.

Frontiers In Genetics

Liu, Wanlu W; Shi, Xinwei X; Li, Yuqi Y; Qiao, Fuyuan F; Chen, Suhua S; Feng, Ling L; Zeng, Wanjiang W; Deng, Dongrui D; Wu, Yuanyuan Y

Publication Date: 2022

Variant appearance in text: COL4A5: 1769A>C

PubMed Link: 35711925

Variant Present in the following documents:

• Main text
• fgene-13-869525.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: COL4A5: K590T

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.

Plos One

Liu, Yanqiu Y; Wei, Xiaoming X; Kong, Xiangdong X; Guo, Xueqin X; Sun, Yan Y; Man, Jianfen J; Du, Lique L; Zhu, Hui H; Qu, Zelan Z; Tian, Ping P; Mao, Bing B; Yang, Yun Y

Publication Date: 2015

Variant appearance in text: COL4A5: 1769A>C; K590T

PubMed Link: 26274329

Variant Present in the following documents:

• Main text
• pone.0133636.pdf

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