Publications:

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: KCNQ1: 1110G>A

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: KCNQ1: A370A; rs1805118

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: KCNQ1: A370A

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications

North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ

Publication Date: 2018-05-14

Variant appearance in text: KCNQ1: A370=; rs1805118

PubMed Link: 29760388

Variant Present in the following documents:

• 41467_2018_4008_MOESM3_ESM.xlsx, sheet 19

View BVdb publication page

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A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

Bmc Medical Genetics

Nishimura, Motoi M; Ueda, Marehiko M; Ebata, Ryota R; Utsuno, Emi E; Ishii, Takuma T; Matsushita, Kazuyuki K; Ohara, Osamu O; Shimojo, Naoki N; Kobayashi, Yoshio Y; Nomura, Fumio F

Publication Date: 2017-06-08

Variant appearance in text: KCNQ1: 1110G>A; Ala370=

PubMed Link: 28595573

Variant Present in the following documents:

• 12881_2017_430_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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QT Prolongation and Life Threatening Ventricular Tachycardia in a Patient Injected With Intravenous Meperidine (Demerol®).

Korean Circulation Journal

Song, Mi Kyoung MK; Bae, Eun Jung EJ; Baek, Jae Suk JS; Kwon, Bo Sang BS; Kim, Gi Beom GB; Noh, Chung Il CI; Choi, Jung Yun JY; Park, Sung Sup SS

Publication Date: 2011-06

Variant appearance in text: KCNQ1: A370A

PubMed Link: 21779290

Variant Present in the following documents:

• Main text
• kcj-41-342.pdf

View BVdb publication page

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Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Zhang, Yu Y; Chang, Bingxi B; Hu, Songnian S; Wang, Duenmei D; Fang, Quan Q; Huang, Xianyong X; Zeng, Qiang Q; Qi, Ming M

Publication Date: 2008-04

Variant appearance in text: KCNQ1: A370A; rs1805118

PubMed Link: 18426444

Variant Present in the following documents:

• Main text

View BVdb publication page

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