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: rs12917376

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Polygenic Hyperlipidemias and Coronary Artery Disease Risk.

Circulation. Genomic And Precision Medicine

Ripatti, Pietari P; Rämö, Joel T JT; Mars, Nina J NJ; Fu, Yu Y; Lin, Jake J; Söderlund, Sanni S; Benner, Christian C; Surakka, Ida I; Kiiskinen, Tuomo T; Havulinna, Aki S AS; Palta, Priit P; Freimer, Nelson B NB; Widén, Elisabeth E; Salomaa, Veikko V; Tukiainen, Taru T; Pirinen, Matti M; Palotie, Aarno A; Taskinen, Marja-Riitta MR; Ripatti, Samuli S; ,

Publication Date: 2020-04

Variant appearance in text: rs12917376

PubMed Link: 32154731

Variant Present in the following documents:

• hcg-13-e002725-s001.pdf

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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: LMAN1L: 1323+144C>T; rs12917376

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

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CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.

Nature Genetics

Manjarrez-Orduño, Nataly N; Marasco, Emiliano E; Chung, Sharon A SA; Katz, Matthew S MS; Kiridly, Jenna F JF; Simpfendorfer, Kim R KR; Freudenberg, Jan J; Ballard, David H DH; Nashi, Emil E; Hopkins, Thomas J TJ; Cunninghame Graham, Deborah S DS; Lee, Annette T AT; Coenen, Marieke J H MJ; Franke, Barbara B; Swinkels, Dorine W DW; Graham, Robert R RR; Kimberly, Robert P RP; Gaffney, Patrick M PM; Vyse, Timothy J TJ; Behrens, Timothy W TW; Criswell, Lindsey A LA; Diamond, Betty B; Gregersen, Peter K PK

Publication Date: 2012-11

Variant appearance in text: rs12917376

PubMed Link: 23042117

Variant Present in the following documents:

• NIHMS408117-supplement-1.pdf

View BVdb publication page