Publications:

Parental segregation study reveals rare benign and likely benign variants in a Brazilian cohort of rare diseases.

Scientific Reports

Quaio, Caio Robledo D 'Angioli Costa CRD'C; Ceroni, Jose Ricardo Magliocco JRM; Cervato, Murilo Castro MC; Thurow, Helena Strelow HS; Moreira, Caroline Monaco CM; Trindade, Ana Carolina Gomes ACG; Furuzawa, Cintia Reys CR; de Souza, Rafaela Rogerio Floriano RRF; Perazzio, Sandro Felix SF; Dutra, Aurelio Pimenta AP; Chung, Christine Hsiaoyun CH; Kim, Chong Ae CA

Publication Date: 2022-05-11

Variant appearance in text: PRRT2: 522T>G; Ser174Arg; rs777955072

PubMed Link: 35546177

Variant Present in the following documents:

• 41598_2022_11932_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Molecular Therapy. Nucleic Acids

Song, Libin L; Qi, Simin S; Hu, Wei W; Fang, Zhixiao Z; Yu, Dehua D; Liu, Teng T; Wu, Jingni J; Wu, Yangjun Y; Wu, Aiwei A; Feng, Lanyun L; Xie, Jing J; Zhang, Bo B; He, Wenguang W; Ning, Zhouyu Z; Liu, Luming L; Qin, Jiang-Jiang JJ; Li, Shengli S

Publication Date: 2021-12-03

Variant appearance in text: PRRT2: 522T>G; S174R

PubMed Link: 34513290

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International

Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M

Publication Date: 2020

Variant appearance in text: PRRT2: 522T>G; S174R

PubMed Link: 32489320

Variant Present in the following documents:

• 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: PRRT2: 522T>G; S174R

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

Integrated exome and transcriptome sequencing reveals ZAK isoform usage in gastric cancer.

Nature Communications

Liu, Jinfeng J; McCleland, Mark M; Stawiski, Eric W EW; Gnad, Florian F; Mayba, Oleg O; Haverty, Peter M PM; Durinck, Steffen S; Chen, Ying-Jiun YJ; Klijn, Christiaan C; Jhunjhunwala, Suchit S; Lawrence, Michael M; Liu, Hanbin H; Wan, Yinan Y; Chopra, Vivek V; Yaylaoglu, Murat B MB; Yuan, Wenlin W; Ha, Connie C; Gilbert, Houston N HN; Reeder, Jens J; Pau, Gregoire G; Stinson, Jeremy J; Stern, Howard M HM; Manning, Gerard G; Wu, Thomas D TD; Neve, Richard M RM; de Sauvage, Frederic J FJ; Modrusan, Zora Z; Seshagiri, Somasekar S; Firestein, Ron R; Zhang, Zemin Z

Publication Date: 2014-05-08

Variant appearance in text: PRRT2: S174R

PubMed Link: 24807215

Variant Present in the following documents:

• ncomms4830-s10.xls, sheet 1

View BVdb publication page