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: rs550605

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs550605

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Genotype distribution-based inference of collective effects in genome-wide association studies: insights to age-related macular degeneration disease mechanism.

Bmc Genomics

Woo, Hyung Jun HJ; Yu, Chenggang C; Kumar, Kamal K; Gold, Bert B; Reifman, Jaques J

Publication Date: 2016-08-30

Variant appearance in text: rs550605

PubMed Link: 27576376

Variant Present in the following documents:

• 12864_2016_Article_2871.pdf

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs550605

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 2
• NIHMS580846-supplement-1.xlsx, sheet 3

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Genome-wide association study of age-related macular degeneration identifies associated variants in the TNXB-FKBPL-NOTCH4 region of chromosome 6p21.3.

Human Molecular Genetics

Cipriani, Valentina V; Leung, Hin-Tak HT; Plagnol, Vincent V; Bunce, Catey C; Khan, Jane C JC; Shahid, Humma H; Moore, Anthony T AT; Harding, Simon P SP; Bishop, Paul N PN; Hayward, Caroline C; Campbell, Susan S; Armbrecht, Ana Maria AM; Dhillon, Baljean B; Deary, Ian J IJ; Campbell, Harry H; Dunlop, Malcolm M; Dominiczak, Anna F AF; Mann, Samantha S SS; Jenkins, Sharon A SA; Webster, Andrew R AR; Bird, Alan C AC; Lathrop, Mark M; Zelenika, Diana D; Souied, Eric H EH; Sahel, José-Alain JA; Léveillard, Thierry T; , ; Cree, Angela J AJ; Gibson, Jane J; Ennis, Sarah S; Lotery, Andrew J AJ; Wright, Alan F AF; Clayton, David G DG; Yates, John R W JR

Publication Date: 2012-09-15

Variant appearance in text: rs550605

PubMed Link: 22694956

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration.

Genes And Immunity

Kopplin, L J LJ; Igo, R P RP; Wang, Y Y; Sivakumaran, T A TA; Hagstrom, S A SA; Peachey, N S NS; Francis, P J PJ; Klein, M L ML; SanGiovanni, J P JP; Chew, E Y EY; Pauer, G J T GJ; Sturgill, G M GM; Joshi, T T; Tian, L L; Xi, Q Q; Henning, A K AK; Lee, K E KE; Klein, R R; Klein, B E K BE; Iyengar, S K SK

Publication Date: 2010-12

Variant appearance in text: rs550605

PubMed Link: 20861866

Variant Present in the following documents:

• Main text
• nihms206749.pdf

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The major histocompatibility complex conserved extended haplotype 8.1 in AIDS-related non-Hodgkin lymphoma.

Journal Of Acquired Immune Deficiency Syndromes (1999)

Aissani, Brahim B; Ogwaro, Kisani M KM; Shrestha, Sadeep S; Tang, Jianming J; Breen, Elizabeth C EC; Wong, Hui-Lee HL; Jacobson, Lisa P LP; Rabkin, Charles S CS; Ambinder, Richard F RF; Martinez-Maza, Otoniel O; Kaslow, Richard A RA

Publication Date: 2009-10-01

Variant appearance in text: rs550605

PubMed Link: 19654554

Variant Present in the following documents:

• Main text

View BVdb publication page

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C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

Plos One

Jakobsdottir, Johanna J; Conley, Yvette P YP; Weeks, Daniel E DE; Ferrell, Robert E RE; Gorin, Michael B MB

Publication Date: 2008-05-21

Variant appearance in text: rs550605

PubMed Link: 18493315

Variant Present in the following documents:

• pone.0002199.s005.pdf

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