Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs1050705

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One

Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F

Publication Date: 2021

Variant appearance in text: rs1050705

PubMed Link: 34662354

Variant Present in the following documents:

• pone.0258675.s001.pdf

View BVdb publication page

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Hsa-miR-5581-3p and Hsa-miR-542-3p Target the F8 Gene in Hemophilia A without F8 Mutations.

Mediterranean Journal Of Hematology And Infectious Diseases

Meng, Feiying F

Publication Date: 2021

Variant appearance in text: rs1050705

PubMed Link: 34276910

Variant Present in the following documents:

• Main text
• mjhid-13-1-e2021041.pdf

View BVdb publication page

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs1050705

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: rs1050705

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs1050705

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.

Plos Genetics

Serre, David D; Gurd, Scott S; Ge, Bing B; Sladek, Robert R; Sinnett, Donna D; Harmsen, Eef E; Bibikova, Marina M; Chudin, Eugene E; Barker, David L DL; Dickinson, Todd T; Fan, Jian-Bing JB; Hudson, Thomas J TJ

Publication Date: 2008-02-29

Variant appearance in text: rs1050705

PubMed Link: 18454203

Variant Present in the following documents:

• Main text
• pgen.1000006.pdf

View BVdb publication page

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A sequence variation scan of the coagulation factor VIII (FVIII) structural gene and associations with plasma FVIII activity levels.

Blood

Viel, Kevin R KR; Machiah, Deepa K DK; Warren, Diane M DM; Khachidze, Manana M; Buil, Alfonso A; Fernstrom, Karl K; Souto, Juan C JC; Peralta, Juan M JM; Smith, Todd T; Blangero, John J; Porter, Sandra S; Warren, Stephen T ST; Fontcuberta, Jordi J; Soria, Jose M JM; Flanders, W Dana WD; Almasy, Laura L; Howard, Tom E TE

Publication Date: 2007-05-01

Variant appearance in text: rs1050705

PubMed Link: 17209060

Variant Present in the following documents:

• Main text

View BVdb publication page

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