Publications:

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DaT Scan "Abnormality" in Hyperglycemic-Hemichorea.

Tremor And Other Hyperkinetic Movements (New York, N.Y.)

Doher, Nicholas N; Gupta, Harsh V HV

Publication Date: 2019

Variant appearance in text: KCNA5: E211D; rs35853292

PubMed Link: 31824748

Variant Present in the following documents:

• tre-09-739-s003.xlsx, sheet 3
• tre-09-739-s003.xlsx, sheet 4

View BVdb publication page

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Expression of potassium channel genes predicts clinical outcome in lung cancer.

The Korean Journal Of Physiology & Pharmacology : Official Journal Of The Korean Physiological Society And The Korean Society Of Pharmacology

Ko, Eun-A EA; Kim, Young-Won YW; Lee, Donghee D; Choi, Jeongyoon J; Kim, Seongtae S; Seo, Yelim Y; Bang, Hyoweon H; Kim, Jung-Ha JH; Ko, Jae-Hong JH

Publication Date: 2019-11

Variant appearance in text: KCNA5: E211D

PubMed Link: 31680775

Variant Present in the following documents:

• Main text
• kjpp-23-529.pdf

View BVdb publication page

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The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Archives Of Medical Science : Ams

Bonaventura, Jiří J; Norambuena, Patricia P; Tomašov, Pavol P; Jindrová, Denisa D; Šedivá, Hana H; Macek, Milan M; Veselka, Josef J

Publication Date: 2019-05

Variant appearance in text: KCNA5: 633G>C; Glu211Asp

PubMed Link: 31110529

Variant Present in the following documents:

• AMS-15-33903-S1.pdf

View BVdb publication page

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Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Molecular Genetics & Genomic Medicine

Abbasi, Yeganeh Y; Jabbari, Javad J; Jabbari, Reza R; Glinge, Charlotte C; Izadyar, Seyed Bahador SB; Spiekerkoetter, Edda E; Zamanian, Roham T RT; Carlsen, Jørn J; Tfelt-Hansen, Jacob J

Publication Date: 2018-09

Variant appearance in text: KCNA5: E211D; rs35853292

PubMed Link: 30084161

Variant Present in the following documents:

• Main text
• MGG3-6-835.pdf

View BVdb publication page

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A systematic review of genetic mutations in pulmonary arterial hypertension.

Bmc Medical Genetics

Garcia-Rivas, Gerardo G; Jerjes-Sánchez, Carlos C; Rodriguez, David D; Garcia-Pelaez, José J; Trevino, Victor V

Publication Date: 2017-08-02

Variant appearance in text: KCNA5: 633G>C; Glu211Asp

PubMed Link: 28768485

Variant Present in the following documents:

• 12881_2017_440_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: KCNA5: 633G>C; E211D; rs35853292

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation

Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E

Publication Date: 2015-12

Variant appearance in text: KCNA5: 633G>C; E211D

PubMed Link: 26387786

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: KCNA5: E211D; rs35853292

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Genetics of pulmonary hypertension.

Annals Of Thoracic Medicine

Pasha, Qadar Q

Publication Date: 2014-07

Variant appearance in text: KCNA5: E211D

PubMed Link: 25076992

Variant Present in the following documents:

• Main text
• ATM-9-16.pdf

View BVdb publication page

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Role of genetic polymorphisms of ion channels in the pathophysiology of coronary microvascular dysfunction and ischemic heart disease.

Basic Research In Cardiology

Fedele, Francesco F; Mancone, Massimo M; Chilian, William M WM; Severino, Paolo P; Canali, Emanuele E; Logan, Suzanna S; De Marchis, Maria Laura ML; Volterrani, Maurizio M; Palmirotta, Raffaele R; Guadagni, Fiorella F

Publication Date: 2013-11

Variant appearance in text: Kv1.5: Glu211Asp; rs35853292

PubMed Link: 24068186

Variant Present in the following documents:

• Main text
• 395_2013_Article_387.pdf

View BVdb publication page

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Endothelial and smooth muscle cell ion channels in pulmonary vasoconstriction and vascular remodeling.

Comprehensive Physiology

Makino, Ayako A; Firth, Amy L AL; Yuan, Jason X-J JX

Publication Date: 2011-07

Variant appearance in text: KCNA5: E211D

PubMed Link: 23733654

Variant Present in the following documents:

• Main text

View BVdb publication page

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Tetramerization domain mutations in KCNA5 affect channel kinetics and cause abnormal trafficking patterns.

American Journal Of Physiology. Cell Physiology

Burg, Elyssa D ED; Platoshyn, Oleksandr O; Tsigelny, Igor F IF; Lozano-Ruiz, Beatriz B; Rana, Brinda K BK; Yuan, Jason X-J JX

Publication Date: 2010-03

Variant appearance in text: N/A

PubMed Link: 20018952

Variant Present in the following documents:

View BVdb publication page

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