Publications:

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HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology

Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G

Publication Date: 2023-04-22

Variant appearance in text: TG: 127C>T

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology

Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M

Publication Date: 2023-03-03

Variant appearance in text: TG: Leu43Leu

PubMed Link: 36869137

Variant Present in the following documents:

• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 10
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 8
• 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9

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Intravascular Large B-Cell Lymphoma Genomic Profile Is Characterized by Alterations in Genes Regulating NF-κB and Immune Checkpoints.

The American Journal Of Surgical Pathology

Gonzalez-Farre, Blanca B; Ramis-Zaldivar, Joan E JE; Castrejón de Anta, Natalia N; Rivas-Delgado, Alfredo A; Nadeu, Ferran F; Salmeron-Villalobos, Julia J; Enjuanes, Anna A; Karube, Kennosuke K; Balagué, Olga O; Cobo, Francesc F; Kelleher, Nicholas N; Victoria, Ingrid I; Veloza, Luis L; Teixido, Cristina C; Giné, Eva E; Lopez-Guerra, Mónica M; Quintanilla-Martinez, Leticia L; Lopez-Guillermo, Armando A; Salaverria, Itziar I; Campo, Elias E

Publication Date: 2022-10-12

Variant appearance in text: TG: 127C>T

PubMed Link: 36221796

Variant Present in the following documents:

• pas-47-202-s007.xlsx, sheet 1

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: TG: L43L

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics

Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2022-09

Variant appearance in text: TG: 127C>T

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: TG: 127C>T

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: TG: 127C>T

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Whole genome resequencing and complementation tests reveal candidate loci contributing to bacterial wilt (Ralstonia sp.) resistance in tomato.

Scientific Reports

Barchenger, Derek W DW; Hsu, Yu-Ming YM; Ou, Jheng-Yang JY; Lin, Ya-Ping YP; Lin, Yao-Cheng YC; Balendres, Mark Angelo O MAO; Hsu, Yun-Che YC; Schafleitner, Roland R; Hanson, Peter P

Publication Date: 2022-05-19

Variant appearance in text: TG: 127C>T

PubMed Link: 35589778

Variant Present in the following documents:

• 41598_2022_12326_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.

Medicine

Li, Yunsi Y; Chen, Jin J; Zou, Yurong Y; Wang, Wei W; Li, Guisen G

Publication Date: 2022-02-04

Variant appearance in text: TG: 127C>T

PubMed Link: 35119017

Variant Present in the following documents:

• medi-101-e28718.pdf

View BVdb publication page

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Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.

Medicine

Li, Yunsi Y; Chen, Jin J; Zou, Yurong Y; Wang, Wei W; Li, Guisen G

Publication Date: 2022-02-04

Variant appearance in text: TG: 127C>T

PubMed Link: 35119017

Variant Present in the following documents:

• medi-101-e28718.pdf

View BVdb publication page

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Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports

Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T

Publication Date: 2021-11-08

Variant appearance in text: TG: 127C>T

PubMed Link: 34750398

Variant Present in the following documents:

• 41598_2021_987_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Haplotype-resolved de novo assembly of the Vero cell line genome.

Npj Vaccines

Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA

Publication Date: 2021-08-20

Variant appearance in text: TG: 127C>T

PubMed Link: 34417462

Variant Present in the following documents:

• 41541_2021_358_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: TG: L43L

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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K-Ras-Activated Cells Can Develop into Lung Tumors When Runx3-Mediated Tumor Suppressor Pathways Are Abrogated.

Molecules And Cells

Lee, You-Soub YS; Lee, Ja-Yeol JY; Song, Soo-Hyun SH; Kim, Da-Mi DM; Lee, Jung-Won JW; Chi, Xin-Zi XZ; Ito, Yoshiaki Y; Bae, Suk-Chul SC

Publication Date: 2020-10-31

Variant appearance in text: TG: 127C>T

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TG: L43L

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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Identification of 12 cancer types through genome deep learning.

Scientific Reports

Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W

Publication Date: 2019-11-21

Variant appearance in text: TG: L43L

PubMed Link: 31754222

Variant Present in the following documents:

• 41598_2019_53989_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic dynamics in untreated CLL patients with either stable or progressive disease: a longitudinal study.

Journal Of Hematology & Oncology

Ramassone, Alice A; D'Argenio, Andrea A; Veronese, Angelo A; Basti, Alessio A; Soliman, Shimaa Hassan AbdelAziz SHA; Volinia, Stefano S; Bassi, Cristian C; Pagotto, Sara S; Ferracin, Manuela M; Lupini, Laura L; Saccenti, Elena E; Balatti, Veronica V; Pepe, Felice F; Rassenti, Laura Z LZ; Innocenti, Idanna I; Autore, Francesco F; Marzetti, Laura L; Mariani-Costantini, Renato R; Kipps, Thomas J TJ; Negrini, Massimo M; Laurenti, Luca L; Visone, Rosa R

Publication Date: 2019-11-19

Variant appearance in text: TG: 127C>T

PubMed Link: 31744508

Variant Present in the following documents:

• 13045_2019_802_MOESM6_ESM.xlsx, sheet 3

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: TG: 127C>T

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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Effect of nutrition interventions on diet-related and health outcomes of Aboriginal and Torres Strait Islander Australians: a systematic review.

Bmj Open

Gwynn, Josephine J; Sim, Kyra K; Searle, Tania T; Senior, Alistair A; Lee, Amanda A; Brimblecombe, Julie J

Publication Date: 2019-04-03

Variant appearance in text: TG: l43=

PubMed Link: 30948579

Variant Present in the following documents:

• bmjopen-2018-025291.pdf

View BVdb publication page

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Loss of Dnmt3a Immortalizes Hematopoietic Stem Cells In Vivo.

Cell Reports

Jeong, Mira M; Park, Hyun Jung HJ; Celik, Hamza H; Ostrander, Elizabeth L EL; Reyes, Jaime M JM; Guzman, Anna A; Rodriguez, Benjamin B; Lei, Yong Y; Lee, Yeojin Y; Ding, Lei L; Guryanova, Olga A OA; Li, Wei W; Goodell, Margaret A MA; Challen, Grant A GA

Publication Date: 2018-04-03

Variant appearance in text: TG: 127C>T

PubMed Link: 29617651

Variant Present in the following documents:

• NIHMS958971-supplement-5.xlsx, sheet 1

View BVdb publication page

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Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: TG: 127C>T

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1
• oncotarget-08-99237-s003.xlsx, sheet 1

View BVdb publication page

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Comparative Genomics of Two Sequential Candida glabrata Clinical Isolates.

G3 (Bethesda, Md.)

Vale-Silva, Luis L; Beaudoing, Emmanuel E; Tran, Van Du T VDT; Sanglard, Dominique D

Publication Date: 2017-08-07

Variant appearance in text: TG: 127C>T

PubMed Link: 28663342

Variant Present in the following documents:

• 2413FileS2.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: TG: Leu43Leu

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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Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience

Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA

Publication Date: 2016-11

Variant appearance in text: TG: 127C>T; Leu43Phe

PubMed Link: 27694994

Variant Present in the following documents:

• NIHMS815183-supplement-supp_table3.xlsx, sheet 1

View BVdb publication page

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Mutation analysis of a cohort of US patients with hemophilia B.

American Journal Of Hematology

Li, Tengguo T; Miller, Connie H CH; Driggers, Jennifer J; Payne, Amanda B AB; Ellingsen, Dorothy D; Hooper, W Craig WC

Publication Date: 2014-04

Variant appearance in text: TG: 127C>T

PubMed Link: 24375831

Variant Present in the following documents:

• Main text

View BVdb publication page

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