Publications:

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RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Embo Molecular Medicine

Wong, Samantha S; Tan, Yu Xuan YX; Loh, Abigail Yi Ting AYT; Tan, Kiat Yi KY; Lee, Hane H; Aziz, Zainab Z; Nelson, Stanley F SF; Özkan, Engin E; Kayserili, Hülya H; Escande-Beillard, Nathalie N; Reversade, Bruno B

Publication Date: 2023-04-17

Variant appearance in text: 225: 439A>G

PubMed Link: 37066513

Variant Present in the following documents:

• EMMM-15-e17078-s005.xlsx, sheet 5

View BVdb publication page

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Spatial genomic diversity associated with APOBEC mutagenesis in squamous cell carcinoma arising from ovarian teratoma.

Cancer Science

Tamura, Ryo R; Nakaoka, Hirofumi H; Yachida, Nozomi N; Ueda, Haruka H; Ishiguro, Tatsuya T; Motoyama, Teiichi T; Inoue, Ituro I; Enomoto, Takayuki T; Yoshihara, Kosuke K

Publication Date: 2023-02-10

Variant appearance in text: 225: 439A>G

PubMed Link: 36762791

Variant Present in the following documents:

• CAS-114-2145-s001.xlsx, sheet 6

View BVdb publication page

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Genomic evolution towards azole resistance in Candida glabrata clinical isolates unveils the importance of CgHxt4/6/7 in azole accumulation.

Communications Biology

Galocha, Mónica M; Viana, Romeu R; Pais, Pedro P; Silva-Dias, Ana A; Cavalheiro, Mafalda M; Miranda, Isabel M IM; Van Ende, Mieke M; Souza, Caio S CS; Costa, Catarina C; Branco, Joana J; Soares, Cláudio M CM; Van Dijck, Patrick P; Rodrigues, Acácio G AG; Teixeira, Miguel C MC

Publication Date: 2022-10-21

Variant appearance in text: 225: 439A>G

PubMed Link: 36271293

Variant Present in the following documents:

• 42003_2022_4087_MOESM5_ESM.xlsx, sheet 9

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: 225: 439A>G

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 Multipronged Approach Establishes Covalent Modification of β-Tubulin as the Mode of Action of Benzamide Anti-cancer Toxins.

Journal Of Medicinal Chemistry

Povedano, Juan Manuel JM; Rallabandi, Rameshu R; Bai, Xin X; Ye, Xuecheng X; Liou, Joel J; Chen, Hong H; Kim, Jiwoong J; Xie, Yang Y; Posner, Bruce B; Rice, Luke L; De Brabander, Jef K JK; McFadden, David G DG

Publication Date: 2020-11-25

Variant appearance in text: 225: 439A>G

PubMed Link: 33180487

Variant Present in the following documents:

• jm0c01482_si_002.xlsx, sheet 1

View BVdb publication page

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North-Western Himalayan Common Beans: Population Structure and Mapping of Quantitative Anthracnose Resistance Through Genome Wide Association Study.

Frontiers In Plant Science

Banoo, Aqleema A; Nabi, Asha A; Rasool, Rovidha S RS; Mahiya-Farooq, ; Shah, Mehraj D MD; Ahmad, Mushtaq M; Sofi, Parvaze A PA; Aasiya-Nabi, ; Itoo, Hamidullah H; Sharma, P N PN; Padder, Bilal A BA

Publication Date: 2020

Variant appearance in text: 225: 439A>G

PubMed Link: 33123180

Variant Present in the following documents:

• Table_3.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: 225: 439A>G

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

View BVdb publication page

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Whole Genome In-Silico Analysis of South African G1P[8] Rotavirus Strains Before and After Vaccine Introduction Over A Period of 14 Years.

Vaccines

Mwangi, Peter N PN; Mogotsi, Milton T MT; Seheri, Mapaseka L ML; Mphahlele, M Jeffrey MJ; Peenze, Ina I; Esona, Mathew D MD; Kumwenda, Benjamin B; Steele, A Duncan AD; Kirkwood, Carl D CD; Ndze, Valantine N VN; Dennis, Francis E FE; Jere, Khuzwayo C KC; Nyaga, Martin M MM

Publication Date: 2020-10-14

Variant appearance in text: 225: N147D

PubMed Link: 33066615

Variant Present in the following documents:

• vaccines-08-00609.pdf

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: 225: 439A>G

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Inferring protein 3D structure from deep mutation scans.

Nature Genetics

Rollins, Nathan J NJ; Brock, Kelly P KP; Poelwijk, Frank J FJ; Stiffler, Michael A MA; Gauthier, Nicholas P NP; Sander, Chris C; Marks, Debora S DS

Publication Date: 2019-07

Variant appearance in text: 225: N147D

PubMed Link: 31209393

Variant Present in the following documents:

• NIHMS1528215-supplement-1528215_SuppTable1.xlsx, sheet 7

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: 225: 439A>G

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1

View BVdb publication page

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: 225: 439A>G

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_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: 439A>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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Gene expression analysis and SNP/InDel discovery to investigate yield heterosis of two rubber tree F1 hybrids.

Scientific Reports

Li, Dejun D; Zeng, Rizhong R; Li, Yan Y; Zhao, Manman M; Chao, Jinquan J; Li, Yu Y; Wang, Kai K; Zhu, Lihuang L; Tian, Wei-Min WM; Liang, Chengzhi C

Publication Date: 2016-04-25

Variant appearance in text: 225: N147D

PubMed Link: 27108962

Variant Present in the following documents:

• srep24984-s4.xls, sheet 2

View BVdb publication page

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Genome and phylogenetic analyses of Trypanosoma evansi reveal extensive similarity to T. brucei and multiple independent origins for dyskinetoplasty.

Plos Neglected Tropical Diseases

Carnes, Jason J; Anupama, Atashi A; Balmer, Oliver O; Jackson, Andrew A; Lewis, Michael M; Brown, Rob R; Cestari, Igor I; Desquesnes, Marc M; Gendrin, Claire C; Hertz-Fowler, Christiane C; Imamura, Hideo H; Ivens, Alasdair A; Kořený, Luděk L; Lai, De-Hua DH; MacLeod, Annette A; McDermott, Suzanne M SM; Merritt, Chris C; Monnerat, Severine S; Moon, Wonjong W; Myler, Peter P; Phan, Isabelle I; Ramasamy, Gowthaman G; Sivam, Dhileep D; Lun, Zhao-Rong ZR; Lukeš, Julius J; Stuart, Ken K; Schnaufer, Achim A

Publication Date: 2015-01

Variant appearance in text: 225: Asn147Asp

PubMed Link: 25568942

Variant Present in the following documents:

• pntd.0003404.s019.xlsx, sheet 1

View BVdb publication page

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KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.

Plos One

Zhao, Jiandong J; Yuan, Yongyi Y; Huang, Shasha S; Huang, Bangqing B; Cheng, Jing J; Kang, Dongyang D; Wang, Guojian G; Han, Dongyi D; Dai, Pu P

Publication Date: 2014

Variant appearance in text: 225: 439A>G

PubMed Link: 25372295

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat.

Cell

Atanur, Santosh S SS; Diaz, Ana Garcia AG; Maratou, Klio K; Sarkis, Allison A; Rotival, Maxime M; Game, Laurence L; Tschannen, Michael R MR; Kaisaki, Pamela J PJ; Otto, Georg W GW; Ma, Man Chun John MC; Keane, Thomas M TM; Hummel, Oliver O; Saar, Kathrin K; Chen, Wei W; Guryev, Victor V; Gopalakrishnan, Kathirvel K; Garrett, Michael R MR; Joe, Bina B; Citterio, Lorena L; Bianchi, Giuseppe G; McBride, Martin M; Dominiczak, Anna A; Adams, David J DJ; Serikawa, Tadao T; Flicek, Paul P; Cuppen, Edwin E; Hubner, Norbert N; Petretto, Enrico E; Gauguier, Dominique D; Kwitek, Anne A; Jacob, Howard H; Aitman, Timothy J TJ

Publication Date: 2013-08-01

Variant appearance in text: 225: 439A>G

PubMed Link: 23890820

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Optimization algorithms for functional deimmunization of therapeutic proteins.

Bmc Bioinformatics

Parker, Andrew S AS; Zheng, Wei W; Griswold, Karl E KE; Bailey-Kellogg, Chris C

Publication Date: 2010-04-09

Variant appearance in text: 225: N147D

PubMed Link: 20380721

Variant Present in the following documents:

• 1471-2105-11-180.pdf

View BVdb publication page

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