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: 1283C>G

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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Polymorphism of prion protein gene (PRNP) in Nigerian sheep.

Prion

Adeola, Adeniyi C AC; Bello, Semiu F SF; Abdussamad, Abdussamad M AM; Mark, Akanbi I AI; Sanke, Oscar J OJ; Onoja, Anyebe B AB; Nneji, Lotanna M LM; Abdullahi, Nasiru N; Olaogun, Sunday C SC; Rogo, Lawal D LD; Mangbon, Godwin F GF; Pedro, Shamsudeen L SL; Hiinan, Manasseh P MP; Mukhtar, Muhammad M MM; Ibrahim, Jebi J; Saidu, Hayatu H; Dawuda, Philip M PM; Bala, Rukayya K RK; Abdullahi, Hadiza L HL; Salako, Adebowale E AE; Kdidi, Samia S; Yahyaoui, Mohamed Habib MH; Yin, Ting-Ting TT

Publication Date: 2023-12

Variant appearance in text: GC: A428G

PubMed Link: 36892181

Variant Present in the following documents:

• KPRN_17_2186767.pdf

View BVdb publication page

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Genetic Manipulation as a Tool to Unravel Candida parapsilosis Species Complex Virulence and Drug Resistance: State of the Art.

Journal Of Fungi (Basel, Switzerland)

Zoppo, Marina M; Poma, Noemi N; Di Luca, Mariagrazia M; Bottai, Daria D; Tavanti, Arianna A

Publication Date: 2021-06-07

Variant appearance in text: GC: A428G

PubMed Link: 34200514

Variant Present in the following documents:

• Main text
• jof-07-00459.pdf

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: GC: 1283C>G

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.

Journal Of Medical Genetics

Hu, Kun K; Zatyka, Malgorzata M; Astuti, Dewi D; Beer, Nicola N; Dias, Renuka P RP; Kulkarni, Archana A; Ainsworth, John J; Wright, Benjamin B; Majander, Anna A; Yu-Wai-Man, Patrick P; Williams, Denise D; Barrett, Timothy T

Publication Date: 2022-01

Variant appearance in text: GC: 1283C>G

PubMed Link: 34006618

Variant Present in the following documents:

• Main text

View BVdb publication page

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WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.

Journal Of Medical Genetics

Hu, Kun K; Zatyka, Malgorzata M; Astuti, Dewi D; Beer, Nicola N; Dias, Renuka P RP; Kulkarni, Archana A; Ainsworth, John J; Wright, Benjamin B; Majander, Anna A; Yu-Wai-Man, Patrick P; Williams, Denise D; Barrett, Timothy T

Publication Date: 2021-05-18

Variant appearance in text: GC: 1283C>G

PubMed Link: 34006618

Variant Present in the following documents:

• Main text

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: GC: 1283C>G

PubMed Link: 33115981

Variant Present in the following documents:

• molce-43-889_Supple.xlsx, sheet 1

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: GC: 1283C>G; A428G

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-3.xlsx, sheet 1

View BVdb publication page

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