Publications:

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Association of sodium voltage-gated channel genes polymorphisms with epilepsy risk and prognosis in the Saudi population.

Annals Of Medicine

Alghamdi, Mansour A MA; Al-Eitan, Laith N LN; Asiri, Ashwag A; Rababa'h, Doaa M DM; Alqahtani, Sultan A SA; Aldarami, Mohammed S MS; Alsaeedi, Manar A MA; Almuidh, Raghad S RS; Alzahrani, Abdulbari A AA; Sakah, Ahmad H AH; El Nashar, Eman Mohamad EM; Otaif, Mansour Y MY; Abdel Ghaffar, Nawal F NF

Publication Date: 2022-12

Variant appearance in text: rs10497275

PubMed Link: 35801810

Variant Present in the following documents:

• Main text
• IANN_54_2096257.pdf

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: rs10497275

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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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: rs10497275

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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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: rs10497275

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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Double somatic mosaicism in a child with Dravet syndrome.

Neurology. Genetics

Muir, Alison M AM; King, Chontelle C; Schneider, Amy L AL; Buttar, Aman S AS; Scheffer, Ingrid E IE; Sadleir, Lynette G LG; Mefford, Heather C HC

Publication Date: 2019-06

Variant appearance in text: rs10497275

PubMed Link: 31086826

Variant Present in the following documents:

• Main text
• NG2019009977.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: rs10497275

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

View BVdb publication page

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Non-Coding RNA as Novel Players in the Pathophysiology of Schizophrenia.

Non-Coding Rna

Gibbons, Andrew A; Udawela, Madhara M; Dean, Brian B

Publication Date: 2018-04-12

Variant appearance in text: rs10497275

PubMed Link: 29657307

Variant Present in the following documents:

• Main text
• ncrna-04-00011.pdf

View BVdb publication page

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Attempts to replicate genetic associations with schizophrenia in a cohort from north India.

Npj Schizophrenia

Prasad, Suman S; Bhatia, Triptish T; Kukshal, Prachi P; Nimgaonkar, Vishwajit L VL; Deshpande, Smita N SN; Thelma, B K BK

Publication Date: 2017-08-30

Variant appearance in text: rs10497275

PubMed Link: 28855605

Variant Present in the following documents:

• Main text
• 41537_2017_Article_30.pdf

View BVdb publication page

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Evaluating the Role of Genetic Variants on first-line antiepileptic drug response in North India: Significance of SCN1A and GABRA1 Gene Variants in Phenytoin Monotherapy and its Serum Drug Levels.

Cns Neuroscience & Therapeutics

Baghel, Ruchi R; Grover, Sandeep S; Kaur, Harpreet H; Jajodia, Ajay A; Rawat, Chitra C; Srivastava, Ankit A; Kushwaha, Suman S; Agarwal, Rachna R; Sharma, Sangeeta S; Kukreti, Ritushree R

Publication Date: 2016-09

Variant appearance in text: rs10497275

PubMed Link: 27245092

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association study of MiRSNPs with schizophrenia, tardive dyskinesia and cognition.

Schizophrenia Research

John, Jibin J; Bhatia, Triptish T; Kukshal, Prachi P; Chandna, Puneet P; Nimgaonkar, Vishwajit L VL; Deshpande, Smita N SN; Thelma, B K BK

Publication Date: 2016-07

Variant appearance in text: rs10497275

PubMed Link: 27106592

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of SCN1A and GABA receptor genetic polymorphisms on carbamazepine tolerability and efficacy in Chinese patients with partial seizures: 2-year longitudinal clinical follow-up.

Cns Neuroscience & Therapeutics

Zhou, Bo-Ting BT; Zhou, Qiu-Hong QH; Yin, Ji-Ye JY; Li, Guo-Liang GL; Qu, Jian J; Xu, Xiao-Jing XJ; Liu, Ding D; Zhou, Hong-Hao HH; Liu, Zhao-Qian ZQ

Publication Date: 2012-07

Variant appearance in text: rs10497275

PubMed Link: 22591328

Variant Present in the following documents:

• Main text

View BVdb publication page

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