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: 34G>C; A12P

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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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: 34G>C; A12P

PubMed Link: 35982159

Variant Present in the following documents:

• 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation status and prognostic value of KRAS and NRAS mutations in Moroccan colon cancer patients: A first report.

Plos One

El Agy, Fatima F; El Bardai, Sanae S; El Otmani, Ihsane I; Benbrahim, Zineb Z; Karim, Ibn Majdoub Hassani MH; Mazaz, Khalid K; Benjelloun, El Bachir EB; Ousadden, Abdelmalek A; El Abkari, Mohammed M; Ibrahimi, Sidi Adil SA; Chbani, Laila L

Publication Date: 2021

Variant appearance in text: GC: 34G>C

PubMed Link: 33784337

Variant Present in the following documents:

• pone.0248522.pdf

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Cancer neoantigen prioritization through sensitive and reliable proteogenomics analysis.

Nature Communications

Wen, Bo B; Li, Kai K; Zhang, Yun Y; Zhang, Bing B

Publication Date: 2020-04-09

Variant appearance in text: GC: A12P

PubMed Link: 32273506

Variant Present in the following documents:

• 41467_2020_15456_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: Ala12Pro

PubMed Link: 28592556

Variant Present in the following documents:

• 2345FileS1.xlsx, sheet 1

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: GC: 34G>C

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports

Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK

Publication Date: 2014-11-14

Variant appearance in text: GC: A12P

PubMed Link: 25394353

Variant Present in the following documents:

• srep07063-s2.xls, sheet 3

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: GC: A12P

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1

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Genotypic characterization of UL23 thymidine kinase and UL30 DNA polymerase of clinical isolates of herpes simplex virus: natural polymorphism and mutations associated with resistance to antivirals.

Antimicrobial Agents And Chemotherapy

Burrel, Sonia S; Deback, Claire C; Agut, Henri H; Boutolleau, David D

Publication Date: 2010-11

Variant appearance in text: GC: A12P

PubMed Link: 20733037

Variant Present in the following documents:

• Main text

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Association of PPARgamma allelic variation, osteoprotegerin and abdominal aortic aneurysm.

Clinical Endocrinology

Moran, Corey S CS; Clancy, Paula P; Biros, Erik E; Blanco-Martin, Bernardo B; McCaskie, Pamela P; Palmer, Lyle J LJ; Coomans, Danny D; Norman, Paul E PE; Golledge, Jonathan J

Publication Date: 2010-01

Variant appearance in text: GC: 34G>C

PubMed Link: 19438902

Variant Present in the following documents:

• Main text

View BVdb publication page

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