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: GC: 1226A>G; D409G

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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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: 1226A>G

PubMed Link: 36869137

Variant Present in the following documents:

• 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: 1226A>G; D409G

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

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Design of a companion bioinformatic tool to detect the emergence and geographical distribution of SARS-CoV-2 Spike protein genetic variants.

Journal Of Translational Medicine

Massacci, Alice A; Sperandio, Eleonora E; D'Ambrosio, Lorenzo L; Maffei, Mariano M; Palombo, Fabio F; Aurisicchio, Luigi L; Ciliberto, Gennaro G; Pallocca, Matteo M

Publication Date: 2020-12-30

Variant appearance in text: GC: 1226A>G

PubMed Link: 33380328

Variant Present in the following documents:

• 12967_2020_2675_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: GC: D409G

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM4_ESM.xlsx, sheet 1

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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: GC: 1226A>G

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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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: D409G

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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Ion channel and lipid scramblase activity associated with expression of TMEM16F/ANO6 isoforms.

The Journal Of Physiology

Scudieri, Paolo P; Caci, Emanuela E; Venturini, Arianna A; Sondo, Elvira E; Pianigiani, Giulia G; Marchetti, Carla C; Ravazzolo, Roberto R; Pagani, Franco F; Galietta, Luis J V LJ

Publication Date: 2015-09-01

Variant appearance in text: GC: D409G

PubMed Link: 26108457

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gaucher-Associated Parkinsonism.

Cellular And Molecular Neurobiology

Li, Yaqiong Y; Li, Ping P; Liang, Huimin H; Zhao, Zhiquan Z; Hashimoto, Makoto M; Wei, Jianshe J

Publication Date: 2015-08

Variant appearance in text: GC: 1226A>G

PubMed Link: 25820783

Variant Present in the following documents:

• Main text

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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: GC: D409G

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

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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: D409G

PubMed Link: 24913145

Variant Present in the following documents:

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

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FKBP10 depletion enhances glucocerebrosidase proteostasis in Gaucher disease fibroblasts.

Chemistry & Biology

Ong, Derrick Sek Tong DS; Wang, Ya-Juan YJ; Tan, Yun Lei YL; Yates, John R JR; Mu, Ting-Wei TW; Kelly, Jeffery W JW

Publication Date: 2013-03-21

Variant appearance in text: GC: 1226A>G

PubMed Link: 23434032

Variant Present in the following documents:

• Main text

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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: 1226A>G

PubMed Link: 23430543

Variant Present in the following documents:

• Main text

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Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis.

Nature Chemical Biology

Ong, Derrick Sek Tong DS; Mu, Ting-Wei TW; Palmer, Amy E AE; Kelly, Jeffery W JW

Publication Date: 2010-06

Variant appearance in text: GC: 1226A>G

PubMed Link: 20453863

Variant Present in the following documents:

• NIHMS185032-supplement-1.pdf

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Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.

The Journal Of Biological Chemistry

Maegawa, Gustavo H B GH; Tropak, Michael B MB; Buttner, Justin D JD; Rigat, Brigitte A BA; Fuller, Maria M; Pandit, Deepangi D; Tang, Liangiie L; Kornhaber, Gregory J GJ; Hamuro, Yoshitomo Y; Clarke, Joe T R JT; Mahuran, Don J DJ

Publication Date: 2009-08-28

Variant appearance in text:

PubMed Link: 19578116

Variant Present in the following documents:

• Main text

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Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention.

Journal Of Medicinal Chemistry

Yu, Zhanqian Z; Sawkar, Anu R AR; Whalen, Lisa J LJ; Wong, Chi-Huey CH; Kelly, Jeffery W JW

Publication Date: 2007-01-11

Variant appearance in text: GC: 1226A>G

PubMed Link: 17201413

Variant Present in the following documents:

• Main text

View BVdb publication page

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