PSMD3 c.549+583C>T

Variant ID: 17-38143548-C-T

NM_002809.3(PSMD3):c.549+583C>T

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: rs4065321
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts.

Human Genomics
Guyatt, Anna L AL; Brennan, Rebecca R RR; Burrows, Kimberley K; Guthrie, Philip A I PAI; Ascione, Raimondo R; Ring, Susan M SM; Gaunt, Tom R TR; Pyle, Angela A; Cordell, Heather J HJ; Lawlor, Debbie A DA; Chinnery, Patrick F PF; Hudson, Gavin G; Rodriguez, Santiago S
Publication Date: 2019-01-31

Variant appearance in text: rs4065321
PubMed Link: 30704525
Variant Present in the following documents:
  • 40246_2018_190_MOESM3_ESM.xlsx, sheet 8
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Genetic associations of T cell cancer immune response with tumor aggressiveness in localized prostate cancer patients and disease reclassification in an active surveillance cohort.

Oncoimmunology
Wang, Qinchuan Q; Gregg, Justin R JR; Gu, Jian J; Ye, Yuanqing Y; Chang, David W DW; Davis, John W JW; Thompson, Timothy C TC; Kim, Jeri J; Logothetis, Christopher J CJ; Wu, Xifeng X
Publication Date: 2019

Variant appearance in text: rs4065321
PubMed Link: 30546938
Variant Present in the following documents:
  • Main text
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A novel association between relaxin receptor polymorphism and hematopoietic stem cell yield after mobilization.

Plos One
Shin, Saeam S; Kim, Juwon J; Kim-Wanner, Soo-Zin SZ; Bönig, Halvard H; Cho, Sung Ran SR; Kim, Sinyoung S; Choi, Jong Rak JR; Lee, Kyung-A KA
Publication Date: 2017

Variant appearance in text: rs4065321
PubMed Link: 28666004
Variant Present in the following documents:
  • Main text
  • pone.0179986.pdf
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Genetic Modifiers of White Blood Cell Count, Albuminuria and Glomerular Filtration Rate in Children with Sickle Cell Anemia.

Plos One
Schaefer, Beverly A BA; Flanagan, Jonathan M JM; Alvarez, Ofelia A OA; Nelson, Stephen C SC; Aygun, Banu B; Nottage, Kerri A KA; George, Alex A; Roberts, Carla W CW; Piccone, Connie M CM; Howard, Thad A TA; Davis, Barry R BR; Ware, Russell E RE
Publication Date: 2016

Variant appearance in text: rs4065321
PubMed Link: 27711207
Variant Present in the following documents:
  • Main text
  • pone.0164364.pdf
View BVdb publication page



Total and Differential Leukocyte Counts in Relation to Incidence of Diabetes Mellitus: A Prospective Population-Based Cohort Study.

Plos One
Borné, Yan Y; Smith, J Gustav JG; Nilsson, Peter M PM; Melander, Olle O; Hedblad, Bo B; Engström, Gunnar G
Publication Date: 2016

Variant appearance in text: rs4065321
PubMed Link: 26891449
Variant Present in the following documents:
  • Main text
  • pone.0148963.pdf
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Trans-ethnic meta-analysis of white blood cell phenotypes.

Human Molecular Genetics
Keller, Margaux F MF; Reiner, Alexander P AP; Okada, Yukinori Y; van Rooij, Frank J A FJ; Johnson, Andrew D AD; Chen, Ming-Huei MH; Smith, Albert V AV; Morris, Andrew P AP; Tanaka, Toshiko T; Ferrucci, Luigi L; Zonderman, Alan B AB; Lettre, Guillaume G; Harris, Tamara T; Garcia, Melissa M; Bandinelli, Stefania S; Qayyum, Rehan R; Yanek, Lisa R LR; Becker, Diane M DM; Becker, Lewis C LC; Kooperberg, Charles C; Keating, Brendan B; Reis, Jared J; Tang, Hua H; Boerwinkle, Eric E; Kamatani, Yoichiro Y; Matsuda, Koichi K; Kamatani, Naoyuki N; Nakamura, Yusuke Y; Kubo, Michiaki M; Liu, Simin S; Dehghan, Abbas A; Felix, Janine F JF; Hofman, Albert A; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Franco, Oscar H OH; Longo, Dan L DL; Singleton, Andrew B AB; Psaty, Bruce M BM; Evans, Michelle K MK; Cupples, L Adrienne LA; Rotter, Jerome I JI; O'Donnell, Christopher J CJ; Takahashi, Atsushi A; Wilson, James G JG; Ganesh, Santhi K SK; Nalls, Mike A MA; , ; , ; ,
Publication Date: 2014-12-20

Variant appearance in text: rs4065321
PubMed Link: 25096241
Variant Present in the following documents:
  • Main text
View BVdb publication page



eMERGEing progress in genomics-the first seven years.

Frontiers In Genetics
Crawford, Dana C DC; Crosslin, David R DR; Tromp, Gerard G; Kullo, Iftikhar J IJ; Kuivaniemi, Helena H; Hayes, M Geoffrey MG; Denny, Joshua C JC; Bush, William S WS; Haines, Jonathan L JL; Roden, Dan M DM; McCarty, Catherine A CA; Jarvik, Gail P GP; Ritchie, Marylyn D MD
Publication Date: 2014

Variant appearance in text: rs4065321
PubMed Link: 24987407
Variant Present in the following documents:
  • Main text
  • fgene-05-00184.pdf
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Genetics of proteasome diseases.

Scientifica
Gomes, Aldrin V AV
Publication Date: 2013

Variant appearance in text: rs4065321
PubMed Link: 24490108
Variant Present in the following documents:
  • Main text
  • SCIENTIFICA2013-637629.pdf
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Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.

Human Genetics
Crosslin, David R DR; McDavid, Andrew A; Weston, Noah N; Nelson, Sarah C SC; Zheng, Xiuwen X; Hart, Eugene E; de Andrade, Mariza M; Kullo, Iftikhar J IJ; McCarty, Catherine A CA; Doheny, Kimberly F KF; Pugh, Elizabeth E; Kho, Abel A; Hayes, M Geoffrey MG; Pretel, Stephanie S; Saip, Alexander A; Ritchie, Marylyn D MD; Crawford, Dana C DC; Crane, Paul K PK; Newton, Katherine K; Li, Rongling R; Mirel, Daniel B DB; Crenshaw, Andrew A; Larson, Eric B EB; Carlson, Chris S CS; Jarvik, Gail P GP; ,
Publication Date: 2012-04

Variant appearance in text: rs4065321
PubMed Link: 22037903
Variant Present in the following documents:
  • Main text
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Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

Plos Genetics
Reiner, Alexander P AP; Lettre, Guillaume G; Nalls, Michael A MA; Ganesh, Santhi K SK; Mathias, Rasika R; Austin, Melissa A MA; Dean, Eric E; Arepalli, Sampath S; Britton, Angela A; Chen, Zhao Z; Couper, David D; Curb, J David JD; Eaton, Charles B CB; Fornage, Myriam M; Grant, Struan F A SF; Harris, Tamara B TB; Hernandez, Dena D; Kamatini, Naoyuki N; Keating, Brendan J BJ; Kubo, Michiaki M; LaCroix, Andrea A; Lange, Leslie A LA; Liu, Simin S; Lohman, Kurt K; Meng, Yan Y; Mohler, Emile R ER; Musani, Solomon S; Nakamura, Yusuke Y; O'Donnell, Christopher J CJ; Okada, Yukinori Y; Palmer, Cameron D CD; Papanicolaou, George J GJ; Patel, Kushang V KV; Singleton, Andrew B AB; Takahashi, Atsushi A; Tang, Hua H; Taylor, Herman A HA; Taylor, Kent K; Thomson, Cynthia C; Yanek, Lisa R LR; Yang, Lingyao L; Ziv, Elad E; Zonderman, Alan B AB; Folsom, Aaron R AR; Evans, Michele K MK; Liu, Yongmei Y; Becker, Diane M DM; Snively, Beverly M BM; Wilson, James G JG
Publication Date: 2011-06

Variant appearance in text: rs4065321
PubMed Link: 21738479
Variant Present in the following documents:
  • Main text
  • pgen.1002108.pdf
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