Publications:

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ACO2 clinicobiological dataset with extensive phenotype ontology annotation.

Scientific Data

Guehlouz, Khadidja K; Foulonneau, Thomas T; Amati-Bonneau, Patrizia P; Charif, Majida M; Colin, Estelle E; Bris, Céline C; Desquiret-Dumas, Valérie V; Milea, Dan D; Gohier, Philippe P; Procaccio, Vincent V; Bonneau, Dominique D; den Dunnen, Johan T JT; Lenaers, Guy G; Reynier, Pascal P; Ferré, Marc M

Publication Date: 2021-08-05

Variant appearance in text: ACO2: 1898G>A; Arg633His

PubMed Link: 34354088

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2021-07-13

Variant appearance in text: ACO2: 1898G>A; R633H

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Identification of KRAS G12V associated clonal neoantigens and immune microenvironment in long-term survival of pancreatic adenocarcinoma.

Cancer Immunology, Immunotherapy : Cii

Wang, Chao C; Shi, Min M; Zhang, Lei L; Ji, Jun J; Xie, Ruyan R; Wu, Chao C; Guo, Xianchao X; Yang, Ying Y; Zhou, Wei W; Peng, Chenhong C; Zhang, Henghui H; Yuan, Fei F; Zhang, Jun J

Publication Date: 2022-02

Variant appearance in text: ACO2: 1898G>A; R633H

PubMed Link: 34255132

Variant Present in the following documents:

• 262_2021_3012_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.

Brain Communications

Charif, Majida M; Gueguen, Naïg N; Ferré, Marc M; Elkarhat, Zouhair Z; Khiati, Salim S; LeMao, Morgane M; Chevrollier, Arnaud A; Desquiret-Dumas, Valerie V; Goudenège, David D; Bris, Céline C; Kane, Selma S; Alban, Jennifer J; Chupin, Stéphanie S; Wetterwald, Céline C; Caporali, Leonardo L; Tagliavini, Francesca F; LaMorgia, Chiara C; Carbonelli, Michele M; Jurkute, Neringa N; Barakat, Abdelhamid A; Gohier, Philippe P; Verny, Christophe C; Barth, Magalie M; Procaccio, Vincent V; Bonneau, Dominique D; Zanlonghi, Xavier X; Meunier, Isabelle I; Weisschuh, Nicole N; Schimpf-Linzenbold, Simone S; Tonagel, Felix F; Kellner, Ulrich U; Yu-Wai-Man, Patrick P; Carelli, Valerio V; Wissinger, Bernd B; Amati-Bonneau, Patrizia P; Reynier, Pascal P; , ; Lenaers, Guy G

Publication Date: 2021

Variant appearance in text: ACO2: 1898G>A; Arg633His

PubMed Link: 34056600

Variant Present in the following documents:

• Main text
• fcab063_supplementary_data.pdf
• fcab063.pdf

View BVdb publication page

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Cellular origins and genetic landscape of cutaneous gamma delta T cell lymphomas.

Nature Communications

Daniels, Jay J; Doukas, Peter G PG; Escala, Maria E Martinez MEM; Ringbloom, Kimberly G KG; Shih, David J H DJH; Yang, Jingyi J; Tegtmeyer, Kyle K; Park, Joonhee J; Thomas, Jane J JJ; Selli, Mehmet E ME; Altunbulakli, Can C; Gowthaman, Ragul R; Mo, Samuel H SH; Jothishankar, Balaji B; Pease, David R DR; Pro, Barbara B; Abdulla, Farah R FR; Shea, Christopher C; Sahni, Nidhi N; Gru, Alejandro A AA; Pierce, Brian G BG; Louissaint, Abner A; Guitart, Joan J; Choi, Jaehyuk J

Publication Date: 2020-04-14

Variant appearance in text: ACO2: R633H

PubMed Link: 32286303

Variant Present in the following documents:

• 41467_2020_15572_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: ACO2: R633H

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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