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: rs6797133

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: SCN5A: 612-708T>C; rs6797133

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval.

American Journal Of Human Genetics

Ramírez, Julia J; van Duijvenboden, Stefan S; Young, William J WJ; Orini, Michele M; Lambiase, Pier D PD; Munroe, Patricia B PB; Tinker, Andrew A

Publication Date: 2020-06-04

Variant appearance in text: rs6797133

PubMed Link: 32386560

Variant Present in the following documents:

• Main text
• mmc8.pdf

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: rs6797133

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis.

Cardiovascular Diabetology

Parry, Helen M HM; Donnelly, Louise A LA; Van Zuydam, Natalie N; Doney, Alexander Sf AS; Elder, Douglas Hj DH; Morris, Andrew D AD; Struthers, Alan D AD; Palmer, Colin Na CN; Lang, Chim C CC; ,

Publication Date: 2013-07-23

Variant appearance in text: rs6797133

PubMed Link: 23879873

Variant Present in the following documents:

• Main text
• 1475-2840-12-109.pdf

View BVdb publication page

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Genetic epidemiology of left ventricular hypertrophy.

American Journal Of Cardiovascular Disease

Bella, Jonathan N JN; Göring, Harald Hh HH

Publication Date: 2012

Variant appearance in text: rs6797133

PubMed Link: 23173100

Variant Present in the following documents:

• Main text

View BVdb publication page

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What can genetic studies of left ventricular mass tell us?

Circulation. Cardiovascular Genetics

Newton-Cheh, Christopher C

Publication Date: 2011-12

Variant appearance in text: rs6797133

PubMed Link: 22187447

Variant Present in the following documents:

• Main text

View BVdb publication page

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Four genetic loci influencing electrocardiographic indices of left ventricular hypertrophy.

Circulation. Cardiovascular Genetics

Shah, Sonia S; Nelson, Christopher P CP; Gaunt, Tom R TR; van der Harst, Pim P; Barnes, Timothy T; Braund, Peter S PS; Lawlor, Debbie A DA; Casas, Juan-Pablo JP; Padmanabhan, Sandosh S; Drenos, Fotios F; Kivimaki, Mika M; Talmud, Philippa J PJ; Humphries, Steve E SE; Whittaker, John J; Morris, Richard W RW; Whincup, Peter H PH; Dominiczak, Anna A; Munroe, Patricia B PB; Johnson, Toby T; Goodall, Alison H AH; Cambien, Francois F; Diemert, Patrick P; Hengstenberg, Christian C; Ouwehand, Willem H WH; Felix, Janine F JF; Glazer, Nicole L NL; Tomaszewski, Maciej M; Burton, Paul R PR; Tobin, Martin D MD; van Veldhuisen, Dirk J DJ; de Boer, Rudolf A RA; Navis, Gerjan G; van Gilst, Wiek H WH; Mayosi, Bongani M BM; Thompson, John R JR; Kumari, Meena M; MacFarlane, Peter W PW; Day, Ian N M IN; Hingorani, Aroon D AD; Samani, Nilesh J NJ

Publication Date: 2011-12

Variant appearance in text: rs6797133

PubMed Link: 21965548

Variant Present in the following documents:

• Main text

View BVdb publication page

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