Publications:

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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: 955G>C; Gly319Arg

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: 955G>C; Gly319Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Frontiers In Oncology

Nishimura, Toshihide T; Végvári, Ákos Á; Nakamura, Haruhiko H; Kato, Harubumi H; Saji, Hisashi H

Publication Date: 2020

Variant appearance in text: ASLN: G319R

PubMed Link: 32983988

Variant Present in the following documents:

• Data_Sheet_2.xlsx, sheet 18

View BVdb publication page

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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: G319R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: COL4A5: G319R

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

View BVdb publication page

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Thrombin a-chain: activation remnant or allosteric effector?

Thrombosis

Carter, Isis S R IS; Vanden Hoek, Amanda L AL; Pryzdial, Edward L G EL; Macgillivray, Ross T A RT

Publication Date: 2010

Variant appearance in text: ATS: Gly319Arg

PubMed Link: 22084659

Variant Present in the following documents:

• Main text

View BVdb publication page

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