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: 2641G>A; Gly881Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Hydroxychloroquine Ameliorates Hematuria in Children with X-Linked Alport Syndrome: Retrospective Case Series Study.

Pharmacogenomics And Personalized Medicine

Sun, Lei L; Kuang, Xin-Yu XY; Zhang, Jing J; Huang, Wen-Yan WY

Publication Date: 2023

Variant appearance in text: COL4A5: 2641G>A

PubMed Link: 36874354

Variant Present in the following documents:

• Main text
• pgpm-16-145.pdf

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Determination of the pathogenicity of a novel COL4A5 missense variant by CRISPR-Cas9 in kidney podocytes.

American Journal Of Translational Research

Sun, Lei L; Hao, Sheng S; Kuang, Xin-Yu XY; Wu, Ying Y; Huang, Wen-Yan WY

Publication Date: 2021

Variant appearance in text: COL4A5: 2641G>A; Gly881Arg

PubMed Link: 34540022

Variant Present in the following documents:

• Main text

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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: G881R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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