Publications:

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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: rs2071375

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2071375

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Genetic polymorphisms associated with intervertebral disc degeneration.

The Spine Journal : Official Journal Of The North American Spine Society

Mayer, Jillian E JE; Iatridis, James C JC; Chan, Danny D; Qureshi, Sheeraz A SA; Gottesman, Omri O; Hecht, Andrew C AC

Publication Date: 2013-03

Variant appearance in text: rs2071375

PubMed Link: 23537453

Variant Present in the following documents:

• Main text

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Treatment outcome of chronic low back pain and radiographic lumbar disc degeneration are associated with inflammatory and matrix degrading gene variants: a prospective genetic association study.

Bmc Musculoskeletal Disorders

Omair, Ahmad A; Holden, Marit M; Lie, Benedicte Alexandra BA; Reikeras, Olav O; Brox, Jens Ivar JI

Publication Date: 2013-03-22

Variant appearance in text: rs2071375

PubMed Link: 23522322

Variant Present in the following documents:

• Main text

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Genetic association studies in lumbar disc degeneration: a systematic review.

Plos One

Eskola, Pasi J PJ; Lemmelä, Susanna S; Kjaer, Per P; Solovieva, Svetlana S; Männikkö, Minna M; Tommerup, Niels N; Lind-Thomsen, Allan A; Husgafvel-Pursiainen, Kirsti K; Cheung, Kenneth M C KM; Chan, Danny D; Samartzis, Dino D; Karppinen, Jaro J

Publication Date: 2012

Variant appearance in text: rs2071375

PubMed Link: 23185509

Variant Present in the following documents:

• Main text
• pone.0049995.pdf

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An Association Study of Interleukin 18 Receptor Genes (IL18R1 and IL18RAP) in Lumbar Disc Degeneration.

The Open Orthopaedics Journal

Omair, Ahmad A; Lie, Benedicte Alexandra BA; Reikeras, Olav O; Brox, Jens Ivar JI

Publication Date: 2012

Variant appearance in text: rs2071375

PubMed Link: 22550553

Variant Present in the following documents:

• Main text
• TOORTHJ-6-164.pdf

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Allelic variants of IL1R1 gene associate with severe hand osteoarthritis.

Bmc Medical Genetics

Näkki, Annu A; Kouhia, Sanna T ST; Saarela, Janna J; Harilainen, Arsi A; Tallroth, Kaj K; Videman, Tapio T; Battié, Michele C MC; Kaprio, Jaakko J; Peltonen, Leena L; Kujala, Urho M UM

Publication Date: 2010-03-30

Variant appearance in text: rs2071375

PubMed Link: 20353565

Variant Present in the following documents:

• Main text
• 1471-2350-11-50.pdf

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