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: 3499G>A; Gly1167Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: COL4A5: 3499G>A; Gly1167Ser

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.

Human Genetics

Rim, John Hoon JH; Noh, Byunghwa B; Koh, Young Ik YI; Joo, Sun Young SY; Oh, Kyung Seok KS; Kim, Kyumin K; Kim, Jung Ah JA; Kim, Da Hye DH; Kim, Hye-Youn HY; Yoo, Jee Eun JE; Lee, Seung-Tae ST; Bok, Jin Woong JW; Lee, Min Goo MG; Jung, Jinsei J; Choi, Jae Young JY; Gee, Heon Yung HY

Publication Date: 2022-04

Variant appearance in text: COL4A5: 3499G>A; G1167R

PubMed Link: 34519870

Variant Present in the following documents:

• 439_2021_2367_MOESM1_ESM.pdf

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Novel mutations in COL4A3, COL4A4, and COL4A5 in Chinese patients with Alport Syndrome.

Plos One

Liu, Jian-Hong JH; Wei, Xiu-Xiu XX; Li, Ang A; Cui, Ying-Xia YX; Xia, Xin-Yi XY; Qin, Wei-Song WS; Zhang, Ming-Chao MC; Gao, Er-Zhi EZ; Sun, Jun J; Gao, Chun-Lin CL; Liu, Feng-Xia FX; Wu, Qiu-Yue QY; Li, Wei-Wei WW; Asan, ; Liu, Zhi-Hong ZH; Li, Xiao-Jun XJ

Publication Date: 2017

Variant appearance in text: COL4A5: 3499G>A

PubMed Link: 28542346

Variant Present in the following documents:

• pone.0177685.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: COL4A5: G1167S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page