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: rs267192

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs267192

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM6_ESM.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: BMP6: 665-129C>T; rs267192

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1

View BVdb publication page

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Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights

Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK

Publication Date: 2009-07-30

Variant appearance in text: rs267192

PubMed Link: 20401335

Variant Present in the following documents:

• Main text
• gei-2-2009-023.pdf

View BVdb publication page

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Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease.

Blood

Ashley-Koch, Allison E AE; Elliott, Laine L; Kail, Melanie E ME; De Castro, Laura M LM; Jonassaint, Jude J; Jackson, Terry L TL; Price, Jennifer J; Ataga, Kenneth I KI; Levesque, Marc C MC; Weinberg, J Brice JB; Orringer, Eugene P EP; Collins, Ann A; Vance, Jeffery M JM; Telen, Marilyn J MJ

Publication Date: 2008-06-15

Variant appearance in text: rs267192

PubMed Link: 18187665

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of klotho, bone morphogenic protein 6, and annexin A2 polymorphisms with sickle cell osteonecrosis.

Blood

Baldwin, Clinton C; Nolan, Vikki G VG; Wyszynski, Diego F DF; Ma, Qian-Li QL; Sebastiani, Paola P; Embury, Stephen H SH; Bisbee, Alice A; Farrell, John J; Farrer, Lindsay L; Steinberg, Martin H MH

Publication Date: 2005-07-01

Variant appearance in text: rs267192

PubMed Link: 15784727

Variant Present in the following documents:

• Main text

View BVdb publication page

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