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: rs1010546

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Fine-scale haplotype mapping of MUT, AACS, SLC6A15 and PRKCA genes indicates association with insulin resistance of metabolic syndrome and relationship with branched chain amino acid metabolism or regulation.

Plos One

Haydar, Sara S; Grigorescu, Florin F; Vintilă, Mădălina M; Cogne, Yannick Y; Lautier, Corinne C; Tutuncu, Yildiz Y; Brun, Jean Frederic JF; Robine, Jean Marie JM; Pugeat, Michel M; Normand, Christophe C; Poucheret, Patrick P; Gheorghiu, Monica Livia ML; Georgescu, Carmen C; Badiu, Corin C; Băculescu, Nicoleta N; Renard, Eric E; Ylli, Dorina D; Badiou, Stephanie S; Sutra, Thibault T; Cristol, Jean Paul JP; Mercier, Jacques J; Gomis, Ramon R; Macias, Josep Maria JM; Litvinov, Serghey S; Khusnutdinova, Elza E; Poiana, Catalina C; Pasquali, Renato R; Lauro, Davide D; Sesti, Giorgio G; Prudente, Sabrina S; Trischitta, Vincenzo V; Tsatsoulis, Agathocles A; Abdelhak, Sonia S; Barakat, Abdelhamid A; Zenati, Akila A; Ylli, Agron A; Satman, Ilhan I; Kanninen, Timo T; Rinato, Yves Y; Missoni, Sasa S

Publication Date: 2019

Variant appearance in text: rs1010546

PubMed Link: 30913280

Variant Present in the following documents:

• Main text
• pone.0214122.pdf

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: PRKCA: 821+11C>T; rs1010546

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs1010546

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Association of polymorphisms in the aldosterone-regulated sodium reabsorption pathway with blood pressure among Hispanics.

Bmc Proceedings

Tayo, Bamidele O BO; Tong, Liping L; Cooper, Richard S RS

Publication Date: 2016

Variant appearance in text: rs1010546

PubMed Link: 27980660

Variant Present in the following documents:

• Main text
• 12919_2016_Article_54.pdf

View BVdb publication page

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A network-driven approach for genome-wide association mapping.

Bioinformatics (Oxford, England)

Lee, Seunghak S; Kong, Soonho S; Xing, Eric P EP

Publication Date: 2016-06-15

Variant appearance in text: rs1010546

PubMed Link: 27307613

Variant Present in the following documents:

• Main text
• btw270.pdf

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PRKCA and multiple sclerosis: association in two independent populations.

Plos Genetics

Saarela, Janna J; Kallio, Suvi P SP; Chen, Daniel D; Montpetit, Alexandre A; Jokiaho, Anne A; Choi, Eva E; Asselta, Rosanna R; Bronnikov, Denis D; Lincoln, Matthew R MR; Sadovnick, A Dessa AD; Tienari, Pentti J PJ; Koivisto, Keijo K; Palotie, Aarno A; Ebers, George C GC; Hudson, Thomas J TJ; Peltonen, Leena L

Publication Date: 2006-03

Variant appearance in text: rs1010546

PubMed Link: 16596167

Variant Present in the following documents:

• Main text
• pgen.0020042.pdf

View BVdb publication page

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