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: rs133367

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research

Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y

Publication Date: 2022-12

Variant appearance in text: rs133367

PubMed Link: 36307579

Variant Present in the following documents:

• 41422_2022_736_MOESM10_ESM.xlsx, sheet 3

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: NAGA: 325-72G>A; rs133367

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.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: rs133367

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: rs133367

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 1
• mmc3.xlsx, sheet 2

View BVdb publication page

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SNP-SNP interaction analysis of NF-κB signaling pathway on breast cancer survival.

Oncotarget

Jamshidi, Maral M; Fagerholm, Rainer R; Khan, Sofia S; Aittomäki, Kristiina K; Czene, Kamila K; Darabi, Hatef H; Li, Jingmei J; Andrulis, Irene L IL; Chang-Claude, Jenny J; Devilee, Peter P; Fasching, Peter A PA; Michailidou, Kyriaki K; Bolla, Manjeet K MK; Dennis, Joe J; Wang, Qin Q; Guo, Qi Q; Rhenius, Valerie V; Cornelissen, Sten S; Rudolph, Anja A; Knight, Julia A JA; Loehberg, Christian R CR; Burwinkel, Barbara B; Marme, Frederik F; Hopper, John L JL; Southey, Melissa C MC; Bojesen, Stig E SE; Flyger, Henrik H; Brenner, Hermann H; Holleczek, Bernd B; Margolin, Sara S; Mannermaa, Arto A; Kosma, Veli-Matti VM; , ; Van Dyck, Laurien L; Nevelsteen, Ines I; Couch, Fergus J FJ; Olson, Janet E JE; Giles, Graham G GG; McLean, Catriona C; Haiman, Christopher A CA; Henderson, Brian E BE; Winqvist, Robert R; Pylkäs, Katri K; Tollenaar, Rob A E M RA; García-Closas, Montserrat M; Figueroa, Jonine J; Hooning, Maartje J MJ; Martens, John W M JW; Cox, Angela A; Cross, Simon S SS; Simard, Jacques J; Dunning, Alison M AM; Easton, Douglas F DF; Pharoah, Paul D P PD; Hall, Per P; Blomqvist, Carl C; Schmidt, Marjanka K MK; Nevanlinna, Heli H

Publication Date: 2015-11-10

Variant appearance in text: rs133367

PubMed Link: 26317411

Variant Present in the following documents:

• Main text
• oncotarget-06-37979.pdf

View BVdb publication page

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