Publications:

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: 225: L139L

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: N/A

PubMed Link: 36075891

Variant Present in the following documents:

View BVdb publication page

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: 225: 417G>T

PubMed Link: 34887858

Variant Present in the following documents:

• Table_4.xlsx, sheet 1

View BVdb publication page

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SARS-CoV-2 Reinfection Is a New Challenge for the Effectiveness of Global Vaccination Campaign: A Systematic Review of Cases Reported in Literature.

International Journal Of Environmental Research And Public Health

Lo Muzio, Lorenzo L; Ambosino, Mariateresa M; Lo Muzio, Eleonora E; Quadri, Mir Faeq Ali MFA

Publication Date: 2021-10-19

Variant appearance in text: 225: L139L

PubMed Link: 34682746

Variant Present in the following documents:

• Main text
• ijerph-18-11001.pdf

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Current mutatome of SARS-CoV-2 in Turkey reveals mutations of interest.

Turkish Journal Of Biology = Turk Biyoloji Dergisi

Eskİer, Doğa D; Akalp, Evren E; Dalan, Özlem Ö; KarakÜlah, Gökhan G; Oktay, Yavuz Y

Publication Date: 2021

Variant appearance in text: 225: L139L

PubMed Link: 33597826

Variant Present in the following documents:

• turkjbio-45-104.pdf

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GESS: a database of global evaluation of SARS-CoV-2/hCoV-19 sequences.

Nucleic Acids Research

Fang, Shuyi S; Li, Kailing K; Shen, Jikui J; Liu, Sheng S; Liu, Juli J; Yang, Lei L; Hu, Chang-Deng CD; Wan, Jun J

Publication Date: 2021-01-08

Variant appearance in text: 225: L139L

PubMed Link: 33045727

Variant Present in the following documents:

• gkaa808_supplemental_file.xlsx, sheet 1

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Decoding SARS-CoV-2 Transmission and Evolution and Ramifications for COVID-19 Diagnosis, Vaccine, and Medicine.

Journal Of Chemical Information And Modeling

Wang, Rui R; Hozumi, Yuta Y; Yin, Changchuan C; Wei, Guo-Wei GW

Publication Date: 2020-12-28

Variant appearance in text: 225: L139L

PubMed Link: 32530284

Variant Present in the following documents:

• Main text

View BVdb publication page

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High-density genetic linkage-map construction of hawthorn and QTL mapping for important fruit traits.

Plos One

Zhao, Yuhui Y; Zhao, Yidi Y; Guo, Yinshan Y; Su, Kai K; Shi, Xiaochang X; Liu, Di D; Zhang, Jijun J

Publication Date: 2020

Variant appearance in text: 225: Leu139Leu

PubMed Link: 32045463

Variant Present in the following documents:

• pone.0229020.s004.xlsx, sheet 1

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Identification of Single Nucleotide Polymorphism in Red Clover (Trifolium pratense L.) Using Targeted Genomic Amplicon Sequencing and RNA-seq.

Frontiers In Plant Science

Li, Wenli W; Riday, Heathcliffe H; Riehle, Christina C; Edwards, Andrea A; Dinkins, Randy R

Publication Date: 2019

Variant appearance in text: 225: 417G>T

PubMed Link: 31708937

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications

Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM

Publication Date: 2018-09-10

Variant appearance in text: 225: L139L

PubMed Link: 30202019

Variant Present in the following documents:

• 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: 225: 417G>T

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget

Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2014-05-30

Variant appearance in text: 225: L139L

PubMed Link: 24913145

Variant Present in the following documents:

• oncotarget-05-2912-s003.xlsx, sheet 1

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Mutational landscape of gingivo-buccal oral squamous cell carcinoma reveals new recurrently-mutated genes and molecular subgroups.

Nature Communications

,

Publication Date: 2013

Variant appearance in text: 225: L139L

PubMed Link: 24292195

Variant Present in the following documents:

• ncomms3873-s2.xls, sheet 1

View BVdb publication page

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