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: rs2834167

PubMed Link: 36582804

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Heterogeneity of immune control in chronic hepatitis B virus infection: Clinical implications on immunity with interferon-α treatment and retreatment.

World Journal Of Gastroenterology

Yin, Guo-Qing GQ; Chen, Ke-Ping KP; Gu, Xiao-Chun XC

Publication Date: 2022-10-28

Variant appearance in text: rs2834167

PubMed Link: 36353205

Variant Present in the following documents:

• WJG-28-5784.pdf

View BVdb publication page

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Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports

Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-10-14

Variant appearance in text: IL10RB: K47E

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2

View BVdb publication page

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: IL10RB: K47E; rs2834167

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A comprehensive meta-analysis and prioritization study to identify vitiligo associated coding and non-coding SNV candidates using web-based bioinformatics tools.

Scientific Reports

Dutta, Tithi T; Mitra, Sayantan S; Saha, Arpan A; Ganguly, Kausik K; Pyne, Tushar T; Sengupta, Mainak M

Publication Date: 2022-08-25

Variant appearance in text: rs2834167

PubMed Link: 36008553

Variant Present in the following documents:

• 41598_2022_18766_MOESM4_ESM.xlsx, sheet 4

View BVdb publication page

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Targeting genome integrity dysfunctions impedes metastatic potency in non-small cell lung cancer circulating tumor cell-derived explants.

Jci Insight

Tayoun, Tala T; Faugeroux, Vincent V; Oulhen, Marianne M; Déas, Olivier O; Michels, Judith J; Brulle-Soumare, Laura L; Cairo, Stefano S; Scoazec, Jean-Yves JY; Marty, Virginie V; Aberlenc, Agathe A; Planchard, David D; Remon, Jordi J; Ponce, Santiago S; Besse, Benjamin B; Kannouche, Patricia L PL; Judde, Jean-Gabriel JG; Pawlikowska, Patrycja P; Farace, Françoise F

Publication Date: 2022-06-08

Variant appearance in text: IL10RB: 139A>G; Lys47Glu; rs2834167

PubMed Link: 35511434

Variant Present in the following documents:

• jciinsight-7-155804-s149.xlsx, sheet 1

View BVdb publication page

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Genetic variants of interferon lambda-related genes and chronic kidney disease susceptibility in the Korean population.

Kidney Research And Clinical Practice

Kwak, Jin Ho JH; Paek, Jin Hyuk JH; Yu, Gyeong Im GI; Han, Seungyeup S; Park, Woo Yeong WY; Kim, Yaerim Y; Shin, Dong Hoon DH; Jin, Kyubok K

Publication Date: 2022-07

Variant appearance in text: rs2834167

PubMed Link: 35286793

Variant Present in the following documents:

• j-krcp-21-075.pdf

View BVdb publication page

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Association of Interleukin Genes IL10 and IL10RB with Parameters of Overweight in Military Students.

Genes

Maculewicz, Ewelina E; Dzitkowska-Zabielska, Magdalena M; Antkowiak, Bożena B; Antkowiak, Oktawiusz O; Mastalerz, Andrzej A; Garbacz, Aleksandra A; Massidda, Myosotis M; Bojarczuk, Aleksandra A; Dziuda, Łukasz Ł; Cięszczyk, Paweł P

Publication Date: 2022-02-01

Variant appearance in text: rs2834167

PubMed Link: 35205336

Variant Present in the following documents:

• Main text
• genes-13-00291.pdf

View BVdb publication page

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Germline biomarkers predict toxicity to anti-PD1/PDL1 checkpoint therapy.

Journal For Immunotherapy Of Cancer

Weidhaas, Joanne J; Marco, Nicholas N; Scheffler, Aaron W AW; Kalbasi, Anusha A; Wilenius, Kirk K; Rietdorf, Emily E; Gill, Jaya J; Heilig, Mara M; Desler, Caroline C; Chin, Robert K RK; Kaprealian, Tania T; McCloskey, Susan S; Raldow, Ann A; Raja, Naga P NP; Kesari, Santosh S; Carrillo, Jose J; Drakaki, Alexandra A; Scholz, Mark M; Telesca, Donatello D

Publication Date: 2022-02

Variant appearance in text: rs2834167

PubMed Link: 35115362

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Germline biomarkers predict toxicity to anti-PD1/PDL1 checkpoint therapy.

Journal For Immunotherapy Of Cancer

Weidhaas, Joanne J; Marco, Nicholas N; Scheffler, Aaron W AW; Kalbasi, Anusha A; Wilenius, Kirk K; Rietdorf, Emily E; Gill, Jaya J; Heilig, Mara M; Desler, Caroline C; Chin, Robert K RK; Kaprealian, Tania T; McCloskey, Susan S; Raldow, Ann A; Raja, Naga P NP; Kesari, Santosh S; Carrillo, Jose J; Drakaki, Alexandra A; Scholz, Mark M; Telesca, Donatello D

Publication Date: 2022-02

Variant appearance in text: rs2834167

PubMed Link: 35115362

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: IL10RB: K47E

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

The Potential Mechanism of Cancer Patients Appearing More Vulnerable to SARS-CoV-2 and Poor Outcomes: A Pan-Cancer Bioinformatics Analysis.

Frontiers In Immunology

Huang, Xinwei X; Liang, Huazheng H; Zhang, Hong H; Tian, Li L; Cong, Peilin P; Wu, Tingmei T; Zhang, Qian Q; Gao, Xiaofei X; Li, Wanrong W; Chen, Aiwen A; Zhang, Yuxin Y; Dong, Qianyu Q; Wan, Hanxi H; He, Mengfan M; Dai, Danqing D; Li, Zhen Z; Xiong, Lize L

Publication Date: 2021

Variant appearance in text: rs2834167

PubMed Link: 35082790

Variant Present in the following documents:

• Main text
• fimmu-12-804387.pdf

View BVdb publication page

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Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Iscience

Bateman, Nicholas W NW; Tarney, Christopher M CM; Abulez, Tamara S TS; Hood, Brian L BL; Conrads, Kelly A KA; Zhou, Ming M; Soltis, Anthony R AR; Teng, Pang-Ning PN; Jackson, Amanda A; Tian, Chunqiao C; Dalgard, Clifton L CL; Wilkerson, Matthew D MD; Kessler, Michael D MD; Goecker, Zachary Z; Loffredo, Jeremy J; Shriver, Craig D CD; Hu, Hai H; Cote, Michele M; Parker, Glendon J GJ; Segars, James J; Al-Hendy, Ayman A; Risinger, John I JI; Phippen, Neil T NT; Casablanca, Yovanni Y; Darcy, Kathleen M KM; Maxwell, G Larry GL; Conrads, Thomas P TP; O'Connor, Timothy D TD

Publication Date: 2022-01-21

Variant appearance in text: IL10RB: K47E; rs2834167

PubMed Link: 35036865

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

View BVdb publication page

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Genetic associations with immune-mediated outcomes after allogeneic hematopoietic cell transplantation.

Blood Advances

Martin, Paul J PJ; Levine, David M DM; Storer, Barry E BE; Sather, Cassandra L CL; Spellman, Stephen R SR; Hansen, John A JA

Publication Date: 2022-04-26

Variant appearance in text: rs2834167

PubMed Link: 34996099

Variant Present in the following documents:

• advancesADV2021005620-suppl1.pdf

View BVdb publication page

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Leveraging the Electronic Health Record to Address the COVID-19 Pandemic.

Mayo Clinic Proceedings

Satterfield, Benjamin A BA; Dikilitas, Ozan O; Kullo, Iftikhar J IJ

Publication Date: 2021-06

Variant appearance in text: rs2834167

PubMed Link: 34088418

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: IL10RB: 139A>G; K47E; rs2834167

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

---

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: IL10RB: 139A>G; Lys47Glu; rs2834167

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

View BVdb publication page

---

Actionable druggable genome-wide Mendelian randomization identifies repurposing opportunities for COVID-19.

Nature Medicine

Gaziano, Liam L; Giambartolomei, Claudia C; Pereira, Alexandre C AC; Gaulton, Anna A; Posner, Daniel C DC; Swanson, Sonja A SA; Ho, Yuk-Lam YL; Iyengar, Sudha K SK; Kosik, Nicole M NM; Vujkovic, Marijana M; Gagnon, David R DR; Bento, A Patrícia AP; Barrio-Hernandez, Inigo I; Rönnblom, Lars L; Hagberg, Niklas N; Lundtoft, Christian C; Langenberg, Claudia C; Pietzner, Maik M; Valentine, Dennis D; Gustincich, Stefano S; Tartaglia, Gian Gaetano GG; Allara, Elias E; Surendran, Praveen P; Burgess, Stephen S; Zhao, Jing Hua JH; Peters, James E JE; Prins, Bram P BP; Angelantonio, Emanuele Di ED; Devineni, Poornima P; Shi, Yunling Y; Lynch, Kristine E KE; DuVall, Scott L SL; Garcon, Helene H; Thomann, Lauren O LO; Zhou, Jin J JJ; Gorman, Bryan R BR; Huffman, Jennifer E JE; O'Donnell, Christopher J CJ; Tsao, Philip S PS; Beckham, Jean C JC; Pyarajan, Saiju S; Muralidhar, Sumitra S; Huang, Grant D GD; Ramoni, Rachel R; Beltrao, Pedro P; Danesh, John J; Hung, Adriana M AM; Chang, Kyong-Mi KM; Sun, Yan V YV; Joseph, Jacob J; Leach, Andrew R AR; Edwards, Todd L TL; Cho, Kelly K; Gaziano, J Michael JM; Butterworth, Adam S AS; Casas, Juan P JP; ,

Publication Date: 2021-04

Variant appearance in text: rs2834167

PubMed Link: 33837377

Variant Present in the following documents:

• EMS146273.pdf

View BVdb publication page

---

Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs2834167

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM2_ESM.xls, sheet 1

View BVdb publication page

---

Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: IL10RB: 139A>G; K47E; rs2834167

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 4
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes.

Genes

Balistreri, Carmela Rita CR; Ammoscato, Claudia Leonarda CL; Scola, Letizia L; Fragapane, Tiziana T; Giarratana, Rosa Maria RM; Lio, Domenico D; Piccione, Maria M

Publication Date: 2020-11-28

Variant appearance in text: IL10RB: K47E; rs2834167

PubMed Link: 33260695

Variant Present in the following documents:

• Main text
• genes-11-01428.pdf

View BVdb publication page

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A bioinformatic approach to investigating cytokine genes and their receptor variants in relation to COVID-19 progression.

International Journal Of Immunogenetics

Karakas Celik, Sevim S; Cakmak Genc, Gunes G; Dursun, Ahmet A

Publication Date: 2021-04

Variant appearance in text: IL10RB: K47E; rs2834167

PubMed Link: 33246355

Variant Present in the following documents:

• Main text
• IJI-9999-na.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: IL10RB: K47E; rs2834167

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs2834167

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine

Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T

Publication Date: 2020-02

Variant appearance in text: IL10RB: 139A>G; Lys47Glu

PubMed Link: 31894249

Variant Present in the following documents:

• Supplementary_Data2.xlsx, sheet 4
• Supplementary_Data2.xlsx, sheet 2

View BVdb publication page

---

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: IL10RB: 139A>G; Lys47Glu; rs2834167

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

---

Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK

Publication Date: 2019-10-11

Variant appearance in text: IL10RB: K47E; rs2834167

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 1
• 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: IL10RB: K47E; rs2834167

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Host Genetic Determinants of Hepatitis B Virus Infection.

Frontiers In Genetics

Zhang, Zhenhua Z; Wang, Changtai C; Liu, Zhongping Z; Zou, Guizhou G; Li, Jun J; Lu, Mengji M

Publication Date: 2019

Variant appearance in text: rs2834167

PubMed Link: 31475028

Variant Present in the following documents:

• Main text
• fgene-10-00696.pdf

View BVdb publication page

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Research Progress on Regulatory B Cells in Systemic Lupus Erythematosus.

Biomed Research International

Wang, Tao T; Mei, Yongjun Y; Li, Zhijun Z

Publication Date: 2019

Variant appearance in text: rs2834167

PubMed Link: 31240224

Variant Present in the following documents:

• Main text
• BMRI2019-7948687.pdf

View BVdb publication page

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: IL10RB: 139A>G; Lys47Glu

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

View BVdb publication page

---

A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.

Scientific Reports

Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW

Publication Date: 2019-03-20

Variant appearance in text: IL10RB: K47E; rs2834167

PubMed Link: 30894629

Variant Present in the following documents:

• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 3
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 12
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 13
• 41598_2019_41277_MOESM4_ESM.xlsx, sheet 10

View BVdb publication page

---

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: IL10RB: 139A>G; rs2834167

PubMed Link: 30814510

Variant Present in the following documents:

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

View BVdb publication page

---

Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: IL10RB: K47E

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 1

View BVdb publication page

---

Association of a PD-L2 Gene Polymorphism with Chronic Lymphatic Filariasis in a South Indian Cohort.

The American Journal Of Tropical Medicine And Hygiene

Venugopal, Gopinath G; O'Regan, Noëlle L NL; Babu, Subash S; Schumann, Ralf R RR; Srikantam, Aparna A; Merle, Roswitha R; Hartmann, Susanne S; Steinfelder, Svenja S

Publication Date: 2019-02

Variant appearance in text: rs2834167

PubMed Link: 30594267

Variant Present in the following documents:

• Main text

View BVdb publication page

---

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports

Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN

Publication Date: 2018-11-02

Variant appearance in text: IL10RB: K47E; rs2834167

PubMed Link: 30389958

Variant Present in the following documents:

• 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: IL10RB: 139A>G; Lys47Glu; rs2834167

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

View BVdb publication page

---

A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: IL10RB: 139A>G; K47E; rs2834167

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 7
• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 6
• MGG3-6-739-s002.xlsx, sheet 3

View BVdb publication page

---

Genetic studies of human neuropathic pain conditions: a review.

Pain

Zorina-Lichtenwalter, Katerina K; Parisien, Marc M; Diatchenko, Luda L

Publication Date: 2018-03

Variant appearance in text: rs2834167

PubMed Link: 29240606

Variant Present in the following documents:

• jop-159-583.pdf

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Genetic polymorphism related to monocyte-macrophage function is associated with graft-versus-host disease.

Scientific Reports

Hyvärinen, Kati K; Ritari, Jarmo J; Koskela, Satu S; Niittyvuopio, Riitta R; Nihtinen, Anne A; Volin, Liisa L; Gallardo, David D; Partanen, Jukka J

Publication Date: 2017-11-15

Variant appearance in text: rs2834167

PubMed Link: 29142307

Variant Present in the following documents:

• Main text

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Genetic association and epistatic interaction of the interleukin-10 signaling pathway in pediatric inflammatory bowel disease.

World Journal Of Gastroenterology

Lin, Zhenwu Z; Wang, Zhong Z; Hegarty, John P JP; Lin, Tony R TR; Wang, Yunhua Y; Deiling, Sue S; Wu, Rongling R; Thomas, Neal J NJ; Floros, Joanna J

Publication Date: 2017-07-21

Variant appearance in text: rs2834167

PubMed Link: 28785144

Variant Present in the following documents:

• Main text
• WJG-23-4897.pdf

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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: rs2834167

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Inflammatory pathway genes associated with inter-individual variability in the trajectories of morning and evening fatigue in patients receiving chemotherapy.

Cytokine

Wright, Fay F; Hammer, Marilyn M; Paul, Steven M SM; Aouizerat, Bradley E BE; Kober, Kord M KM; Conley, Yvette P YP; Cooper, Bruce A BA; Dunn, Laura B LB; Levine, Jon D JD; DEramo Melkus, Gail G; Miaskowski, Christine C

Publication Date: 2017-03

Variant appearance in text: rs2834167

PubMed Link: 28110208

Variant Present in the following documents:

• Main text

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A systematic review of the association between fatigue and genetic polymorphisms.

Brain, Behavior, And Immunity

Wang, Tengteng T; Yin, Jie J; Miller, Andrew H AH; Xiao, Canhua C

Publication Date: 2017-05

Variant appearance in text: IL10RB: Lys47Glu

PubMed Link: 28089639

Variant Present in the following documents:

• Main text

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Biological Basis for the Clustering of Symptoms.

Seminars In Oncology Nursing

Lynch Kelly, Debra D; Dickinson, Kristin K; Hsiao, Chao-Pin CP; Lukkahatai, Nada N; Gonzalez-Marrero, Velda V; McCabe, Margaret M; Saligan, Leorey N LN

Publication Date: 2016-11

Variant appearance in text: IL10RB: Lys47Glu

PubMed Link: 27776832

Variant Present in the following documents:

• Main text

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Replication of associations between genetic polymorphisms and chronic graft-versus-host disease.

Blood

Martin, Paul J PJ; Fan, Wenhong W; Storer, Barry E BE; Levine, David M DM; Zhao, Lue Ping LP; Warren, Edus H EH; Flowers, Mary E D ME; Lee, Stephanie J SJ; Carpenter, Paul A PA; Boeckh, Michael M; Hingorani, Sangeeta S; Yan, Li L; Hu, Qiang Q; Preus, Leah L; Liu, Song S; Spellman, Stephen S; Zhu, Xiaochun X; Pasquini, Marcelo M; McCarthy, Philip P; Stram, Daniel D; Sheng, Xin X; Pooler, Loreall L; Haiman, Christopher A CA; Sucheston-Campbell, Lara L; Hahn, Theresa T; Hansen, John A JA

Publication Date: 2016-11-17

Variant appearance in text: rs2834167

PubMed Link: 27758874

Variant Present in the following documents:

• Main text

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Genetic Contributions of Inflammation to Depression.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology

Barnes, Jacob J; Mondelli, Valeria V; Pariante, Carmine M CM

Publication Date: 2017-01

Variant appearance in text: rs2834167

PubMed Link: 27555379

Variant Present in the following documents:

• Main text
• npp2016169a.pdf

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Comprehensive mutation screening for 10 genes in Chinese patients suffering very early onset inflammatory bowel disease.

World Journal Of Gastroenterology

Xiao, Yuan Y; Wang, Xin-Qiong XQ; Yu, Yi Y; Guo, Yan Y; Xu, Xu X; Gong, Ling L; Zhou, Tong T; Li, Xiao-Qin XQ; Xu, Chun-Di CD

Publication Date: 2016-06-28

Variant appearance in text: IL-10R2: K47E; rs2834167

PubMed Link: 27350736

Variant Present in the following documents:

• Main text

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PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: IL10RB: K47E

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s005.xlsx, sheet 1

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Multiple gene mutations identified in patients infected with influenza A (H7N9) virus.

Scientific Reports

Chen, Cuicui C; Wang, Mingbang M; Zhu, Zhaoqin Z; Qu, Jieming J; Xi, Xiuhong X; Tang, Xinjun X; Lao, Xiangda X; Seeley, Eric E; Li, Tao T; Fan, Xiaomei X; Du, Chunling C; Wang, Qin Q; Yang, Lin L; Hu, Yunwen Y; Bai, Chunxue C; Zhang, Zhiyong Z; Lu, Shuihua S; Song, Yuanlin Y; Zhou, Wenhao W

Publication Date: 2016-05-09

Variant appearance in text: rs2834167

PubMed Link: 27156515

Variant Present in the following documents:

• Main text
• srep25614.pdf

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Human Cytokine Genetic Variants Associated With HBsAg Reverse Seroconversion in Rituximab-Treated Non-Hodgkin Lymphoma Patients.

Medicine

Hsiao, Liang-Tsai LT; Wang, Hao-Yuan HY; Yang, Ching-Fen CF; Chiou, Tzeon-Jye TJ; Gau, Jyh-Pyng JP; Yu, Yuan-Bin YB; Liu, Hsiao-Ling HL; Chang, Wen-Chun WC; Chen, Po-Min PM; Tzeng, Cheng-Hwai CH; Chan, Yu-Jiun YJ; Yang, Muh-Hwa MH; Liu, Jin-Hwang JH; Huang, Yi-Hsiang YH

Publication Date: 2016-03

Variant appearance in text: rs2834167

PubMed Link: 26986131

Variant Present in the following documents:

• medi-95-e3064-s001.pdf

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Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Clinical Immunology (Orlando, Fla.)

Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY

Publication Date: 2016-02

Variant appearance in text: IL10RB: 139A>G; Lys47Glu; rs2834167

PubMed Link: 26680607

Variant Present in the following documents:

• mmc2.xlsx, sheet 4
• mmc2.xlsx, sheet 2

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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: rs2834167

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: IL10RB: K47E

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

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Insights from GWAS: emerging landscape of mechanisms underlying complex trait disease.

Bmc Genomics

Pal, Lipika R LR; Yu, Chen-Hsin CH; Mount, Stephen M SM; Moult, John J

Publication Date: 2015

Variant appearance in text: rs2834167

PubMed Link: 26110739

Variant Present in the following documents:

• 1471-2164-16-S8-S4-S1.pdf

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Interferon-λ-related genes and therapeutic response in Chinese hepatitis C patients.

World Journal Of Gastroenterology

Zhang, Yuan-Yuan YY; Chen, Hong-Bo HB; Xu, Yin Y; Huang, Peng P; Wang, Jie J; Zhang, Yun Y; Yu, Rong-Bin RB; Su, Jing J

Publication Date: 2015-04-07

Variant appearance in text: rs2834167

PubMed Link: 25852288

Variant Present in the following documents:

• Main text

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