Publications:

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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: GC: 1045G>A

PubMed Link: 36869137

Variant Present in the following documents:

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

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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: GC: 1045G>A

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Protein phosphatase 2A inactivation induces microsatellite instability, neoantigen production and immune response.

Nature Communications

Yen, Yu-Ting YT; Chien, May M; Wu, Pei-Yi PY; Ho, Chi-Chang CC; Ho, Chun-Te CT; Huang, Kevin Chih-Yang KC; Chiang, Shu-Fen SF; Chao, K S Clifford KSC; Chen, William Tzu-Liang WT; Hung, Shih-Chieh SC

Publication Date: 2021-12-15

Variant appearance in text: GC: 1045G>A

PubMed Link: 34911954

Variant Present in the following documents:

• 41467_2021_27620_MOESM6_ESM.xlsx, sheet 17

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Protein phosphatase 2A inactivation induces microsatellite instability, neoantigen production and immune response.

Nature Communications

Yen, Yu-Ting YT; Chien, May M; Wu, Pei-Yi PY; Ho, Chi-Chang CC; Ho, Chun-Te CT; Huang, Kevin Chih-Yang KC; Chiang, Shu-Fen SF; Chao, K S Clifford KSC; Chen, William Tzu-Liang WT; Hung, Shih-Chieh SC

Publication Date: 2021-12-15

Variant appearance in text: GC: 1045G>A

PubMed Link: 34911954

Variant Present in the following documents:

• 41467_2021_27620_MOESM6_ESM.xlsx, sheet 17

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: GC: 1045G>A

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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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: GC: 1045G>A

PubMed Link: 34750398

Variant Present in the following documents:

• 41598_2021_987_MOESM1_ESM.xlsx, sheet 1

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Genetic analysis of the interaction between the N- and C-terminal halves of UNC-112 (kindlin).

Micropublication Biology

Qadota, Hiroshi H; Luo, Yating Y; Oberhauser, Andres F AF; Benian, Guy M GM

Publication Date: 2020-12-17

Variant appearance in text: GC: E349K

PubMed Link: 33367222

Variant Present in the following documents:

• 25789430-2020-micropub.biology.000342.pdf

View BVdb publication page

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Distinct mutation profiles between primary bladder cancer and circulating tumor cells warrant the use of circulating tumors cells as cellular resource for mutation follow-up.

Bmc Cancer

Kim, Tae-Min TM; Yoo, Jin-Seon JS; Moon, Hyong Woo HW; Hur, Kyung Jae KJ; Choi, Jin Bong JB; Hong, Sung-Hoo SH; Lee, Ji Youl JY; Ha, U-Syn US

Publication Date: 2020-12-07

Variant appearance in text: GC: E349K

PubMed Link: 33287735

Variant Present in the following documents:

• 12885_2020_7684_MOESM2_ESM.xlsx, sheet 1

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Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.

Orphanet Journal Of Rare Diseases

Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U

Publication Date: 2020-11-18

Variant appearance in text: GC: 1045G>A

PubMed Link: 33208168

Variant Present in the following documents:

• 13023_2020_1608_MOESM4_ESM.xlsx, sheet 2

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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: GC: 1045G>A

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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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: GC: 1045G>A

PubMed Link: 28663342

Variant Present in the following documents:

• 2413FileS2.xlsx, sheet 1

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Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)

Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB

Publication Date: 2017-07-05

Variant appearance in text: GC: Glu349Lys

PubMed Link: 28592556

Variant Present in the following documents:

• 2345FileS1.xlsx, sheet 1

View BVdb publication page

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: GC: E349K

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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: GC: E349K

PubMed Link: 24913145

Variant Present in the following documents:

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

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Translocation domain mutations affecting cellular toxicity identify the Clostridium difficile toxin B pore.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Zhang, Zhifen Z; Park, Minyoung M; Tam, John J; Auger, Anick A; Beilhartz, Greg L GL; Lacy, D Borden DB; Melnyk, Roman A RA

Publication Date: 2014-03-11

Variant appearance in text: GC: E349K

PubMed Link: 24567384

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease.

Jimd Reports

Siebert, Marina M; Bock, Hugo H; Michelin-Tirelli, Kristiane K; Coelho, Janice C JC; Giugliani, Roberto R; Saraiva-Pereira, Maria Luiza ML

Publication Date: 2013

Variant appearance in text: GC: E349K

PubMed Link: 23430543

Variant Present in the following documents:

• Main text

View BVdb publication page

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