Publications:

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: rs1053074

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Effects of AQP4 and KCNJ10 Gene Polymorphisms on Drug Resistance and Seizure Susceptibility in Chinese Han Patients with Focal Epilepsy.

Neuropsychiatric Disease And Treatment

Zhu, Haoyue H; Zhang, Mengqi M; Fu, Yujiao Y; Long, Hongyu H; Xiao, Wenbiao W; Feng, Li L; Xiao, Bo B; Zhou, Luo L

Publication Date: 2020

Variant appearance in text: rs1053074

PubMed Link: 32021205

Variant Present in the following documents:

• Main text
• ndt-16-119.pdf

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs1053074

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: rs1053074

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

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Common variants of KCNJ10 are associated with susceptibility and anti-epileptic drug resistance in Chinese genetic generalized epilepsies.

Plos One

Guo, Yong Y; Yan, Kui Po KP; Qu, Qiang Q; Qu, Jian J; Chen, Zi Gui ZG; Song, Tao T; Luo, Xiang-Ying XY; Sun, Zhong-Yi ZY; Bi, Chang-Long CL; Liu, Jin-Fang JF

Publication Date: 2015

Variant appearance in text: rs1053074

PubMed Link: 25874548

Variant Present in the following documents:

• Main text
• pone.0124896.pdf

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Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology

Tung, Joyce Y JY; Kiefer, Amy K AK; Mullins, Meghan M; Francke, Uta U; Eriksson, Nicholas N

Publication Date: 2013-11

Variant appearance in text: rs1053074

PubMed Link: 23633020

Variant Present in the following documents:

• jid2013196x1.pdf

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A genome-wide scan for genes involved in primary vesicoureteric reflux.

Journal Of Medical Genetics

Kelly, H H; Molony, C M CM; Darlow, J M JM; Pirker, M E ME; Yoneda, A A; Green, A J AJ; Puri, P P; Barton, D E DE

Publication Date: 2007-11

Variant appearance in text: rs1053074

PubMed Link: 17660461

Variant Present in the following documents:

• Main text

View BVdb publication page

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Whole-genome association studies of alcoholism with loci linked to schizophrenia susceptibility.

Bmc Genetics

Namkung, Junghyun J; Kim, Youngchul Y; Park, Taesung T

Publication Date: 2005-12-30

Variant appearance in text: rs1053074

PubMed Link: 16451705

Variant Present in the following documents:

• Main text
• 1471-2156-6-S1-S9.pdf

View BVdb publication page

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