Publications:

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Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology

Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A

Publication Date: 2022

Variant appearance in text: rs1760904

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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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: rs1760904

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Relative Leukocyte Telomere Length and Telomerase Complex Regulatory Markers Association with Leber's Hereditary Optic Neuropathy.

Medicina (Kaunas, Lithuania)

Liutkeviciene, Rasa R; Mikalauskaite, Rasa R; Gedvilaite, Greta G; Glebauskiene, Brigita B; Kriauciuniene, Loresa L; Žemaitienė, Reda R

Publication Date: 2022-09-07

Variant appearance in text: rs1760904

PubMed Link: 36143917

Variant Present in the following documents:

• Main text
• medicina-58-01240.pdf

View BVdb publication page

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Molecular Markers of Telomerase Complex for Patients with Pituitary Adenoma.

Brain Sciences

Gedvilaite, Greta G; Vilkeviciute, Alvita A; Glebauskiene, Brigita B; Kriauciuniene, Loresa L; Liutkeviciene, Rasa R

Publication Date: 2022-07-25

Variant appearance in text: rs1760904

PubMed Link: 35892421

Variant Present in the following documents:

• Main text
• brainsci-12-00980.pdf

View BVdb publication page

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Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease

Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D

Publication Date: 2019-02-27

Variant appearance in text: rs1760904

PubMed Link: 30814510

Variant Present in the following documents:

• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
• 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2

View BVdb publication page

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs1760904

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Autosomal Minor Histocompatibility Antigens: How Genetic Variants Create Diversity in Immune Targets.

Frontiers In Immunology

Griffioen, Marieke M; van Bergen, Cornelis A M CA; Falkenburg, J H Frederik JH

Publication Date: 2016

Variant appearance in text: rs1760904

PubMed Link: 27014279

Variant Present in the following documents:

• Main text
• fimmu-07-00100.pdf

View BVdb publication page

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: rs1760904

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports

Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R

Publication Date: 2015-03-16

Variant appearance in text: rs1760904

PubMed Link: 25773295

Variant Present in the following documents:

• srep09124-s3.xls, sheet 1

View BVdb publication page

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Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics

Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z

Publication Date: 2013

Variant appearance in text: rs1760904

PubMed Link: 23819521

Variant Present in the following documents:

• 1471-2164-14-S3-S7-S1.xlsx, sheet 2

View BVdb publication page

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A prospective study of leukocyte telomere length and risk of type 2 diabetes in postmenopausal women.

Diabetes

You, Nai-Chieh Y NC; Chen, Brian H BH; Song, Yiqing Y; Lu, XuYang X; Chen, Yilin Y; Manson, JoAnn E JE; Kang, Mo M; Howard, Barbara V BV; Margolis, Karen L KL; Curb, J David JD; Phillips, Lawrence S LS; Stefanick, Marcia L ML; Tinker, Lesley F LF; Liu, Simin S

Publication Date: 2012-11

Variant appearance in text: rs1760904

PubMed Link: 22829448

Variant Present in the following documents:

• Main text
• 2998.pdf

View BVdb publication page

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Allele-specific expression in the germline of patients with familial pancreatic cancer: an unbiased approach to cancer gene discovery.

Cancer Biology & Therapy

Tan, Aik Choon AC; Fan, Jian-Bing JB; Karikari, Collins C; Bibikova, Marina M; Garcia, Eliza Wickham EW; Zhou, Lixin L; Barker, David D; Serre, David D; Feldmann, Georg G; Hruban, Ralph H RH; Klein, Alison P AP; Goggins, Michael M; Couch, Fergus J FJ; Hudson, Thomas J TJ; Winslow, Raimond L RL; Maitra, Anirban A; Chakravarti, Aravinda A

Publication Date: 2008-01

Variant appearance in text: rs1760904

PubMed Link: 18059179

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in five genes important in telomere biology and risk for breast cancer.

British Journal Of Cancer

Savage, S A SA; Chanock, S J SJ; Lissowska, J J; Brinton, L A LA; Richesson, D D; Peplonska, B B; Bardin-Mikolajczak, A A; Zatonski, W W; Szeszenia-Dabrowska, N N; Garcia-Closas, M M

Publication Date: 2007-09-17

Variant appearance in text: rs1760904

PubMed Link: 17848914

Variant Present in the following documents:

• 6603934a.pdf

View BVdb publication page

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