SCN1A c.603-91G>A

Variant ID: 2-166909544-C-T

NM_001165963.1(SCN1A):c.603-91G>A

This variant was identified in 75 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs3812718
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



SCN1A polymorphisms influence the antiepileptic drugs responsiveness in Jordanian epileptic patients.

Journal Of Medical Biochemistry
Abduljabbar, Rami R; Eid, Tamimi Duaa TD; Yousef, Al-Motassem AM; Mukred, Saeed Ramzi SR; Zawiah, Mohammed M
Publication Date: 2023-03-15

Variant appearance in text: rs3812718
PubMed Link: 36987424
Variant Present in the following documents:
  • jomb-42-2-2302214A.pdf
View BVdb publication page



CYP2C19-rs4986893 confers risk to major depressive disorder and bipolar disorder in the Han Chinese population whereas ABCB1-rs1045642 acts as a protective factor.

Bmc Psychiatry
Zhang, Ting T; Rao, Qingmin Q; Lin, Kangguang K; He, Yongyin Y; Cai, Jintai J; Yang, Mengxin M; Xu, Ying Y; Hou, Le L; Lin, Yulong Y; Liu, Haiying H
Publication Date: 2023-01-25

Variant appearance in text: rs3812718
PubMed Link: 36698099
Variant Present in the following documents:
  • Main text
  • 12888_2022_Article_4514.pdf
View BVdb publication page



Pharmacogenetics-based population pharmacokinetic analysis and dose optimization of valproic acid in Chinese southern children with epilepsy: Effect of ABCB1 gene polymorphism.

Frontiers In Pharmacology
Shen, Xianhuan X; Chen, Xinyi X; Lu, Jieluan J; Chen, Qing Q; Li, Wenzhou W; Zhu, Jiahao J; He, Yaodong Y; Guo, Huijuan H; Xu, Chenshu C; Fan, Xiaomei X
Publication Date: 2022

Variant appearance in text: rs3812718
PubMed Link: 36506519
Variant Present in the following documents:
  • Main text
  • fphar-13-1037239.pdf
View BVdb publication page



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: rs3812718
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: rs3812718
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Pharmacogenes that demonstrate high association evidence according to CPIC, DPWG, and PharmGKB.

Frontiers In Medicine
Alshabeeb, Mohammad A MA; Alyabsi, Mesnad M; Aziz, Mohammad A MA; Abohelaika, Salah S
Publication Date: 2022

Variant appearance in text: rs3812718
PubMed Link: 36388934
Variant Present in the following documents:
  • Main text
  • fmed-09-1001876.pdf
View BVdb publication page



Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: rs3812718
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study.

Italian Journal Of Pediatrics
Ghazala, Esraa E; Shahin, Doaa A DA; Wahba, Yahya Y
Publication Date: 2022-09-02

Variant appearance in text: rs3812718
PubMed Link: 36056404
Variant Present in the following documents:
  • Main text
  • 13052_2022_Article_1350.pdf
View BVdb publication page



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: rs3812718
PubMed Link: 35801810
Variant Present in the following documents:
  • Main text
  • IANN_54_2096257.pdf
View BVdb publication page



De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes.

Human Mutation
Scala, Marcello M; Drouot, Nathalie N; MacLennan, Suzanna C SC; Wessels, Marja W MW; Krygier, Magdalena M; Pavinato, Lisa L; Telegrafi, Aida A; de Man, Stella A SA; van Slegtenhorst, Marjon M; Iacomino, Michele M; Madia, Francesca F; Scudieri, Paolo P; Uva, Paolo P; Giacomini, Thea T; Nobile, Giulia G; Mancardi, Maria Margherita MM; Balagura, Ganna G; Galloni, Giovanni Battista GB; Verrotti, Alberto A; Umair, Muhammad M; Khan, Amjad A; Liebelt, Jan J; Schmidts, Miriam M; Langer, Thorsten T; Brusco, Alfredo A; Lipska-Ziętkiewicz, Beata S BS; Saris, Jasper J JJ; Charlet-Berguerand, Nicolas N; Zara, Federico F; Striano, Pasquale P; Piton, Amélie A
Publication Date: 2022-09

Variant appearance in text: rs3812718
PubMed Link: 35607920
Variant Present in the following documents:
  • Main text
  • HUMU-43-1299.pdf
View BVdb publication page



Pharmacogenetics of Dolutegravir Plasma Exposure Among Southern Africans With Human Immunodeficiency Virus.

The Journal Of Infectious Diseases
Cindi, Zinhle Z; Kawuma, Aida N AN; Maartens, Gary G; Bradford, Yuki Y; Venter, Francois F; Sokhela, Simiso S; Chandiwana, Nomathemba N; Wasmann, Roeland E RE; Denti, Paolo P; Wiesner, Lubbe L; Ritchie, Marylyn D MD; Haas, David W DW; Sinxadi, Phumla P
Publication Date: 2022-11-01

Variant appearance in text: rs3812718
PubMed Link: 35512135
Variant Present in the following documents:
  • EMS145648-supplement-Supplementary_file.pdf
View BVdb publication page



Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.

Genetics Research
Ashfaq, Aqsa A; Saleem, Tayyaba T; Sheikh, Nadeem N; Maqbool, Hafsa H
Publication Date: 2022

Variant appearance in text: rs3812718
PubMed Link: 35136380
Variant Present in the following documents:
  • Main text
  • GR2022-1168703.pdf
View BVdb publication page



Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan.

Genetics Research
Ashfaq, Aqsa A; Saleem, Tayyaba T; Sheikh, Nadeem N; Maqbool, Hafsa H
Publication Date: 2022

Variant appearance in text: rs3812718
PubMed Link: 35136380
Variant Present in the following documents:
  • Main text
  • GR2022-1168703.pdf
View BVdb publication page



Pharmacogenetics of Drug-Resistant Epilepsy (Review of Literature).

International Journal Of Molecular Sciences
Smolarz, Beata B; Makowska, Marianna M; Romanowicz, Hanna H
Publication Date: 2021-10-28

Variant appearance in text: rs3812718
PubMed Link: 34769124
Variant Present in the following documents:
  • Main text
  • ijms-22-11696.pdf
View BVdb publication page



Response to Sodium Channel blocking Antiseizure medications and coding polymorphisms of Sodium Channel genes in Taiwanese epilepsy patients.

Bmc Neurology
Lin, Chih-Hsiang CH; Ho, Chen-Jui CJ; Lu, Yan-Ting YT; Tsai, Meng-Han MH
Publication Date: 2021-09-23

Variant appearance in text: rs3812718
PubMed Link: 34556045
Variant Present in the following documents:
  • Main text
  • 12883_2021_Article_2395.pdf
View BVdb publication page



Multi-omic strategies applied to the study of pharmacoresistance in mesial temporal lobe epilepsy.

Epilepsia Open
Bruxel, Estela M EM; do Canto, Amanda M AM; Bruno, Danielle C F DCF; Geraldis, Jaqueline C JC; Lopes-Cendes, Iscia I
Publication Date: 2022-08

Variant appearance in text: rs3812718
PubMed Link: 34486831
Variant Present in the following documents:
  • Main text
  • EPI4-7-S94.pdf
View BVdb publication page



Developmental dynamics of voltage-gated sodium channel isoform expression in the human and mouse brain.

Genome Medicine
Liang, Lindsay L; Fazel Darbandi, Siavash S; Pochareddy, Sirisha S; Gulden, Forrest O FO; Gilson, Michael C MC; Sheppard, Brooke K BK; Sahagun, Atehsa A; An, Joon-Yong JY; Werling, Donna M DM; Rubenstein, John L R JLR; Sestan, Nenad N; Bender, Kevin J KJ; Sanders, Stephan J SJ
Publication Date: 2021-08-23

Variant appearance in text: rs3812718
PubMed Link: 34425903
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pharmacogenomics Guided Prescription Changes Improved Medication Effectiveness in Patients With Mental Health-Related Disability: A Retrospective Cohort Analyses.

Frontiers In Genetics
Ahmed, Sanjida S; Tahir, Ramzan R; Akhtar, Umbreen U; Faiz, Mark M
Publication Date: 2021

Variant appearance in text: rs3812718
PubMed Link: 34413872
Variant Present in the following documents:
  • Main text
  • fgene-12-644694.pdf
View BVdb publication page



[Early identification and diagnosis of epilepsy related to fever sensitivity].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Xu, Yu-Xin YX; Zhong, Jian-Min JM
Publication Date: 2021-07

Variant appearance in text: rs3812718
PubMed Link: 34266536
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs3812718
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Clinical pharmacogenomics in action: design, assessment and implementation of a novel pharmacogenetic panel supporting drug selection for diseases of the central nervous system (CNS).

Journal Of Translational Medicine
Bothos, E E; Ntoumou, E E; Kelaidoni, K K; Roukas, D D; Drakoulis, N N; Papasavva, M M; Karakostis, F A FA; Moulos, P P; Karakostis, K K
Publication Date: 2021-04-15

Variant appearance in text: rs3812718
PubMed Link: 33858454
Variant Present in the following documents:
  • Main text
View BVdb publication page



Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Frontiers In Neurology
Ademuwagun, Ibitayo Abigail IA; Rotimi, Solomon Oladapo SO; Syrbe, Steffen S; Ajamma, Yvonne Ukamaka YU; Adebiyi, Ezekiel E
Publication Date: 2021

Variant appearance in text: rs3812718
PubMed Link: 33841294
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs3812718
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



The Implementation Science for Genomic Health Translation (INSIGHT) Study in Epilepsy: Protocol for a Learning Health Care System.

Jmir Research Protocols
Feofanova, Elena Valeryevna EV; Zhang, Guo-Qiang GQ; Lhatoo, Samden S; Metcalf, Ginger A GA; Boerwinkle, Eric E; Venner, Eric E
Publication Date: 2021-03-26

Variant appearance in text: rs3812718
PubMed Link: 33769305
Variant Present in the following documents:
  • resprot_v10i3e25576_app2.pdf
View BVdb publication page



Association Between SCN1A rs2298771, SCN1A rs10188577, SCN2A rs17183814, and SCN2A rs2304016 Polymorphisms and Responsiveness to Antiepileptic Drugs: A Meta-Analysis.

Frontiers In Neurology
Li, Mengmeng M; Zhong, Rui R; Lu, Yingxue Y; Zhao, Qian Q; Li, Guangjian G; Lin, Weihong W
Publication Date: 2020

Variant appearance in text: rs3812718
PubMed Link: 33519675
Variant Present in the following documents:
  • Main text
  • fneur-11-591828.pdf
View BVdb publication page



SCN1A IVS5N+5 G>A Polymorphism and Risk of Febrile Seizure and Epilepsy: A Systematic Review and Meta-Analysis.

Frontiers In Neurology
Hao, Jindou J; Liu, Haiying H; Ma, Jiying J; Liu, Guosheng G; Dong, Guoqing G; Liu, Peihui P; Xiao, Fei F
Publication Date: 2020

Variant appearance in text: rs3812718
PubMed Link: 33391151
Variant Present in the following documents:
  • Main text
  • fneur-11-581539.pdf
View BVdb publication page



Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment.

International Journal Of Molecular Sciences
Thakran, Sarita S; Guin, Debleena D; Singh, Pooja P; Singh, Priyanka P; Kukal, Samiksha S; Rawat, Chitra C; Yadav, Saroj S; Kushwaha, Suman S SS; Srivastava, Achal K AK; Hasija, Yasha Y; Saso, Luciano L; Ramachandran, Srinivasan S; Kukreti, Ritushree R
Publication Date: 2020-10-21

Variant appearance in text: rs3812718
PubMed Link: 33096746
Variant Present in the following documents:
  • Main text
  • ijms-21-07784.pdf
View BVdb publication page



Transcranial magnetic stimulation as a tool to understand genetic conditions associated with epilepsy.

Epilepsia
Silvennoinen, Katri K; Balestrini, Simona S; Rothwell, John C JC; Sisodiya, Sanjay M SM
Publication Date: 2020-09

Variant appearance in text: rs3812718
PubMed Link: 32783192
Variant Present in the following documents:
  • Main text
  • EPI-61-1818.pdf
View BVdb publication page



Possible Genetic Determinants of Response to Phenytoin in a Group of Colombian Patients With Epilepsy.

Frontiers In Pharmacology
Calderon-Ospina, Carlos Alberto CA; Galvez, Jubby Marcela JM; López-Cabra, Claudia C; Morales, Natalia N; Restrepo, Carlos Martín CM; Rodríguez, Jesús J; Aristizábal-Gutiérrez, Fabio Ancízar FA; Velez-van-Meerbeke, Alberto A; Laissue, Paul P; Fonseca-Mendoza, Dora Janeth DJ
Publication Date: 2020

Variant appearance in text: rs3812718
PubMed Link: 32457604
Variant Present in the following documents:
  • Main text
  • fphar-11-00555.pdf
View BVdb publication page



Pharmacogenomics of Cognitive Dysfunction and Neuropsychiatric Disorders in Dementia.

International Journal Of Molecular Sciences
Cacabelos, Ramon R
Publication Date: 2020-04-26

Variant appearance in text: rs3812718
PubMed Link: 32357528
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations associated with pharmacoresistant epilepsy (Review).

Molecular Medicine Reports
Cárdenas-Rodríguez, Noemí N; Carmona-Aparicio, Liliana L; Pérez-Lozano, Diana L DL; Ortega-Cuellar, Daniel D; Gómez-Manzo, Saúl S; Ignacio-Mejía, Iván I
Publication Date: 2020-04

Variant appearance in text: rs3812718
PubMed Link: 32319641
Variant Present in the following documents:
  • Main text
  • mmr-21-04-1685.pdf
View BVdb publication page



Association of SCN1A, SCN2A, and UGT2B7 Polymorphisms with Responsiveness to Valproic Acid in the Treatment of Epilepsy.

Biomed Research International
Lu, Yuan Y; Su, Quanping Q; Li, Ming M; Dayimu, Alimu A; Dai, Xiaoyu X; Wang, Zhiheng Z; Che, Fengyuan F; Xue, Fuzhong F
Publication Date: 2020

Variant appearance in text: rs3812718
PubMed Link: 32185219
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterogeneity in the distribution of 159 drug-response related SNPs in world populations and their genetic relatedness.

Plos One
Ahsan, Tamim T; Urmi, Nusrat Jahan NJ; Sajib, Abu Ashfaqur AA
Publication Date: 2020

Variant appearance in text: rs3812718
PubMed Link: 31971968
Variant Present in the following documents:
  • Main text
  • pone.0228000.pdf
View BVdb publication page



Pharmacogenomic Characterization in Bipolar Spectrum Disorders.

Pharmaceutics
Fortinguerra, Stefano S; Sorrenti, Vincenzo V; Giusti, Pietro P; Zusso, Morena M; Buriani, Alessandro A
Publication Date: 2019-12-21

Variant appearance in text: rs3812718
PubMed Link: 31877761
Variant Present in the following documents:
  • Main text
  • pharmaceutics-12-00013.pdf
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK
Publication Date: 2019-10-11

Variant appearance in text: rs3812718
PubMed Link: 31604968
Variant Present in the following documents:
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 1
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Population Pharmacogenomics for Precision Public Health in Colombia.

Frontiers In Genetics
Nagar, Shashwat Deepali SD; Moreno, A Melissa AM; Norris, Emily T ET; Rishishwar, Lavanya L; Conley, Andrew B AB; O'Neal, Kelly L KL; Vélez-Gómez, Sara S; Montes-Rodríguez, Camila C; Jaraba-Álvarez, Wendy V WV; Torres, Isaura I; Medina-Rivas, Miguel A MA; Valderrama-Aguirre, Augusto A; Jordan, I King IK; Gallo, Juan Esteban JE
Publication Date: 2019

Variant appearance in text: rs3812718
PubMed Link: 30967898
Variant Present in the following documents:
  • Main text
  • fgene-10-00241.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs3812718
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case-control study and meta-analysis.

Bioscience Reports
Wang, Zhi Jian ZJ; Chen, Jie J; Chen, Hai Liang HL; Zhang, Lin Yan LY; Xu, Duo D; Jiang, Wen Ting WT
Publication Date: 2018-12-21

Variant appearance in text: rs3812718
PubMed Link: 30413604
Variant Present in the following documents:
  • Main text
  • bsr-38-bsr20181654.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs3812718
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



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: rs3812718
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page