Publications:

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: BROX: 507G>A; A169A; rs17163847

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: BROX: Ala169Ala; rs17163847

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: N/A

PubMed Link: 31253177

Variant Present in the following documents:

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: BROX: 507G>A

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: BROX: A169A; rs17163847

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: BROX: A169A; rs17163847

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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