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: rs156640

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: LIG1: 1933-158C>G; rs156640

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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: rs156640

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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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: rs156640

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Germ line variation in nucleotide excision repair genes and lung cancer risk in smokers.

International Journal Of Molecular Epidemiology And Genetics

Sakoda, Lori C LC; Loomis, Melissa M MM; Doherty, Jennifer A JA; Julianto, Liberto L; Barnett, Matt J MJ; Neuhouser, Marian L ML; Thornquist, Mark D MD; Weiss, Noel S NS; Goodman, Gary E GE; Chen, Chu C

Publication Date: 2012

Variant appearance in text: rs156640

PubMed Link: 22493747

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic determinants for promoter hypermethylation in the lungs of smokers: a candidate gene-based study.

Cancer Research

Leng, Shuguang S; Stidley, Christine A CA; Liu, Yushi Y; Edlund, Christopher K CK; Willink, Randall P RP; Han, Younghun Y; Landi, Maria Teresa MT; Thun, Michael M; Picchi, Maria A MA; Bruse, Shannon E SE; Crowell, Richard E RE; Van Den Berg, David D; Caporaso, Neil E NE; Amos, Christopher I CI; Siegfried, Jill M JM; Tesfaigzi, Yohannes Y; Gilliland, Frank D FD; Belinsky, Steven A SA

Publication Date: 2012-02-01

Variant appearance in text: rs156640

PubMed Link: 22139380

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in base excision repair pathway genes, pesticide exposure, and prostate cancer risk.

Environmental Health Perspectives

Barry, Kathryn Hughes KH; Koutros, Stella S; Berndt, Sonja I SI; Andreotti, Gabriella G; Hoppin, Jane A JA; Sandler, Dale P DP; Burdette, Laurie A LA; Yeager, Meredith M; Freeman, Laura E Beane LE; Lubin, Jay H JH; Ma, Xiaomei X; Zheng, Tongzhang T; Alavanja, Michael C R MC

Publication Date: 2011-12

Variant appearance in text: rs156640

PubMed Link: 21810555

Variant Present in the following documents:

• ehp.1103454.s001.pdf

View BVdb publication page

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