GRIN2B c.366C>G ;(p.P122=)

Variant ID: 12-14018777-G-C

NM_000834.3(GRIN2B):c.366C>G;(p.P122=)

This variant was identified in 57 publications

View GRCh38 version.




Publications:


Integrating Common Risk Factors with Polygenic Scores Improves the Prediction of Type 2 Diabetes.

International Journal Of Molecular Sciences
Timasheva, Yanina Y; Balkhiyarova, Zhanna Z; Avzaletdinova, Diana D; Rassoleeva, Irina I; Morugova, Tatiana V TV; Korytina, Gulnaz G; Prokopenko, Inga I; Kochetova, Olga O
Publication Date: 2023-01-04

Variant appearance in text: rs7301328
PubMed Link: 36674502
Variant Present in the following documents:
  • ijms-24-00984.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: N/A
PubMed Link: 36467812
Variant Present in the following documents:
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: N/A
PubMed Link: 36241656
Variant Present in the following documents:
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: N/A
PubMed Link: 36075891
Variant Present in the following documents:
View BVdb publication page



Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.

International Journal Of Molecular Sciences
Scapoli, Chiara C; Ziliotto, Nicole N; Lunghi, Barbara B; Menegatti, Erica E; Salvi, Fabrizio F; Zamboni, Paolo P; Baroni, Marcello M; Mascoli, Francesco F; Bernardi, Francesco F; Marchetti, Giovanna G
Publication Date: 2021-12-28

Variant appearance in text: rs7301328
PubMed Link: 35008743
Variant Present in the following documents:
  • Main text
  • ijms-23-00310.pdf
View BVdb publication page



Combination of Genomic and Transcriptomic Approaches Highlights Vascular and Circadian Clock Components in Multiple Sclerosis.

International Journal Of Molecular Sciences
Scapoli, Chiara C; Ziliotto, Nicole N; Lunghi, Barbara B; Menegatti, Erica E; Salvi, Fabrizio F; Zamboni, Paolo P; Baroni, Marcello M; Mascoli, Francesco F; Bernardi, Francesco F; Marchetti, Giovanna G
Publication Date: 2021-12-28

Variant appearance in text: rs7301328
PubMed Link: 35008743
Variant Present in the following documents:
  • Main text
  • ijms-23-00310.pdf
View BVdb publication page



Association of CaMK2A and MeCP2 signaling pathways with cognitive ability in adolescents.

Molecular Brain
Lee, Li-Ching LC; Su, Ming-Tsan MT; Huang, Hsing-Ying HY; Cho, Ying-Chun YC; Yeh, Ting-Kuang TK; Chang, Chun-Yen CY
Publication Date: 2021-10-04

Variant appearance in text: rs7301328
PubMed Link: 34607601
Variant Present in the following documents:
  • Main text
  • 13041_2021_Article_858.pdf
View BVdb publication page



Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility.

Genes
Okutman, Ozlem O; Tarabeux, Julien J; Muller, Jean J; Viville, Stéphane S
Publication Date: 2021-03-12

Variant appearance in text: rs7301328
PubMed Link: 33809228
Variant Present in the following documents:
  • Main text
  • genes-12-00410.pdf
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: N/A
PubMed Link: 33791233
Variant Present in the following documents:
View BVdb publication page



Impulse Control Disorders in Parkinson's Disease: Epidemiology, Pathogenesis and Therapeutic Strategies.

Frontiers In Psychiatry
Zhang, Jun-Fang JF; Wang, Xi-Xi XX; Feng, Ya Y; Fekete, Robert R; Jankovic, Joseph J; Wu, Yun-Cheng YC
Publication Date: 2021

Variant appearance in text: GRIN2B: 366C>G; rs7301328
PubMed Link: 33633615
Variant Present in the following documents:
  • Main text
  • fpsyt-12-635494.pdf
View BVdb publication page



Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: N/A
PubMed Link: 33503336
Variant Present in the following documents:
View BVdb publication page



Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics
Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y
Publication Date: 2021-01-21

Variant appearance in text: rs7301328
PubMed Link: 33478437
Variant Present in the following documents:
  • 12920_2021_871_MOESM2_ESM.xls, sheet 1
View BVdb publication page



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: N/A
PubMed Link: 33420045
Variant Present in the following documents:
View BVdb publication page



Altruistic Punishment and Impulsivity in Parkinson's Disease: A Social Neuroscience Perspective.

Frontiers In Behavioral Neuroscience
Morese, Rosalba R; Palermo, Sara S
Publication Date: 2020

Variant appearance in text: GRIN2B: 366C>G
PubMed Link: 32792921
Variant Present in the following documents:
  • Main text
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: rs7301328
PubMed Link: 32783192
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and Clinical-Pharmacogenetic Models for Prediction of the Most Common Psychiatric Complications Due to Dopaminergic Treatment in Parkinson's Disease.

The International Journal Of Neuropsychopharmacology
Redenšek, Sara S; Jenko Bizjan, Barbara B; Trošt, Maja M; Dolžan, Vita V
Publication Date: 2020-11-26

Variant appearance in text: rs7301328
PubMed Link: 32710539
Variant Present in the following documents:
  • Main text
  • pyaa028.pdf
View BVdb publication page



Pharmacogenetics of Antipsychotic Drug Treatment: Update and Clinical Implications.

Molecular Neuropsychiatry
Yoshida, Kazunari K; Müller, Daniel J DJ
Publication Date: 2020-04

Variant appearance in text: rs7301328
PubMed Link: 32399466
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs7301328
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: N/A
PubMed Link: 31640808
Variant Present in the following documents:
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: N/A
PubMed Link: 31597922
Variant Present in the following documents:
View BVdb publication page



Impulse Control Disorders in Parkinson's Disease. A Brief and Comprehensive Review.

Frontiers In Neurology
Gatto, Emilia M EM; Aldinio, Victoria V
Publication Date: 2019

Variant appearance in text: rs7301328
PubMed Link: 31057473
Variant Present in the following documents:
  • Main text
  • fneur-10-00351.pdf
View BVdb publication page



Medications, Deep Brain Stimulation, and Other Factors Influencing Impulse Control Disorders in Parkinson's Disease.

Frontiers In Neurology
Eisinger, Robert S RS; Ramirez-Zamora, Adolfo A; Carbunaru, Samuel S; Ptak, Brandon B; Peng-Chen, Zhongxing Z; Okun, Michael S MS; Gunduz, Aysegul A
Publication Date: 2019

Variant appearance in text: rs7301328
PubMed Link: 30863353
Variant Present in the following documents:
  • Main text
  • fneur-10-00086.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: rs7301328
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: rs7301328
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
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: GRIN2B: 366C>G; rs7301328
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Interplay Between Age and Neuroinflammation in Multiple Sclerosis: Effects on Motor and Cognitive Functions.

Frontiers In Aging Neuroscience
Musella, Alessandra A; Gentile, Antonietta A; Rizzo, Francesca Romana FR; De Vito, Francesca F; Fresegna, Diego D; Bullitta, Silvia S; Vanni, Valentina V; Guadalupi, Livia L; Stampanoni Bassi, Mario M; Buttari, Fabio F; Centonze, Diego D; Mandolesi, Georgia G
Publication Date: 2018

Variant appearance in text: rs7301328
PubMed Link: 30135651
Variant Present in the following documents:
  • Main text
  • fnagi-10-00238.pdf
View BVdb publication page



Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine
Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA
Publication Date: 2018-09

Variant appearance in text: N/A
PubMed Link: 30008175
Variant Present in the following documents:
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: N/A
PubMed Link: 29974678
Variant Present in the following documents:
View BVdb publication page



Genetic polymorphisms of GRIN2A and GRIN2B modify the neurobehavioral effects of low-level lead exposure in children.

Environmental Research
Rooney, James P K JPK; Woods, Nancy F NF; Martin, Michael D MD; Woods, James S JS
Publication Date: 2018-08

Variant appearance in text: GRIN2B: 366C>G; rs7301328
PubMed Link: 29655037
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dopaminergic and Opioid Pathways Associated with Impulse Control Disorders in Parkinson's Disease.

Frontiers In Neurology
Erga, Aleksander H AH; Dalen, Ingvild I; Ushakova, Anastasia A; Chung, Janete J; Tzoulis, Charalampos C; Tysnes, Ole Bjørn OB; Alves, Guido G; Pedersen, Kenn Freddy KF; Maple-Grødem, Jodi J
Publication Date: 2018

Variant appearance in text: N/A
PubMed Link: 29541058
Variant Present in the following documents:
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: N/A
PubMed Link: 29221171
Variant Present in the following documents:
View BVdb publication page



Dopamine Agonists and Impulse Control Disorders: A Complex Association.

Drug Safety
Grall-Bronnec, Marie M; Victorri-Vigneau, Caroline C; Donnio, Yann Y; Leboucher, Juliette J; Rousselet, Morgane M; Thiabaud, Elsa E; Zreika, Nicolas N; Derkinderen, Pascal P; Challet-Bouju, Gaëlle G
Publication Date: 2018-01

Variant appearance in text: rs7301328
PubMed Link: 28861870
Variant Present in the following documents:
  • Main text
  • 40264_2017_Article_590.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: GRIN2B: 366C>G; Pro122=
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Pathological gambling in Parkinson's disease: what are the risk factors and what is the role of impulsivity?

The European Journal Of Neuroscience
Heiden, Petra P; Heinz, Andreas A; Romanczuk-Seiferth, Nina N
Publication Date: 2017-01

Variant appearance in text: GRIN2B: 366C>G
PubMed Link: 27623191
Variant Present in the following documents:
  • Main text
  • EJN-45-67.pdf
View BVdb publication page



Genetic variation within GRIN2B in adolescents with alcohol use disorder may be associated with larger left posterior cingulate cortex volume.

Acta Neuropsychiatrica
Dalvie, Shareefa S; Brooks, Samantha J SJ; Cardenas, Valerie V; Fein, George G; Ramesar, Raj R; Stein, Dan J DJ
Publication Date: 2017-08

Variant appearance in text: rs7301328
PubMed Link: 27498914
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical-genetic model predicts incident impulse control disorders in Parkinson's disease.

Journal Of Neurology, Neurosurgery, And Psychiatry
Kraemmer, Julia J; Smith, Kara K; Weintraub, Daniel D; Guillemot, Vincent V; Nalls, Mike A MA; Cormier-Dequaire, Florence F; Moszer, Ivan I; Brice, Alexis A; Singleton, Andrew B AB; Corvol, Jean-Christophe JC
Publication Date: 2016-10

Variant appearance in text: rs7301328
PubMed Link: 27076492
Variant Present in the following documents:
  • Main text
View BVdb publication page



Influence of Genetic Variants of the N-Methyl-D-Aspartate Receptor on Emotion and Social Behavior in Adolescents.

Neural Plasticity
Lee, Li-Ching LC; Cho, Ying-Chun YC; Lin, Pei-Jung PJ; Yeh, Ting-Chi TC; Chang, Chun-Yen CY; Yeh, Ting-Kuang TK
Publication Date: 2016

Variant appearance in text: rs7301328
PubMed Link: 26819771
Variant Present in the following documents:
  • Main text
  • NP2016-6851592.pdf
View BVdb publication page



Association of Parkinson disease age of onset with DRD2, DRD3 and GRIN2B polymorphisms.

Parkinsonism & Related Disorders
Hassan, Anhar A; Heckman, Michael G MG; Ahlskog, J E JE; Wszolek, Zbigniew K ZK; Serie, Daniel J DJ; Uitti, Ryan J RJ; van Gerpen, Jay A JA; Okun, Michael S MS; Rayaprolu, Sruti S; Ross, Owen A OA
Publication Date: 2016-01

Variant appearance in text: rs7301328
PubMed Link: 26627941
Variant Present in the following documents:
  • Main text
View BVdb publication page



Acute physical exercise improves shifting in adolescents at school: evidence for a dopaminergic contribution.

Frontiers In Behavioral Neuroscience
Berse, Timo T; Rolfes, Kathrin K; Barenberg, Jonathan J; Dutke, Stephan S; Kuhlenbäumer, Gregor G; Völker, Klaus K; Winter, Bernward B; Wittig, Michael M; Knecht, Stefan S
Publication Date: 2015

Variant appearance in text: rs7301328
PubMed Link: 26283937
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in MicroRNA Genes And Genes Involving in NMDAR Signaling and Schizophrenia: A Case-Control Study in Chinese Han Population.

Scientific Reports
Zhang, Yanxia Y; Fan, Mei M; Wang, Qingzhong Q; He, Guang G; Fu, Yingmei Y; Li, Huafang H; Yu, Shunying S
Publication Date: 2015-08-10

Variant appearance in text: rs7301328
PubMed Link: 26257337
Variant Present in the following documents:
  • Main text
View BVdb publication page



DRD and GRIN2B polymorphisms and their association with the development of impulse control behaviour among Malaysian Parkinson's disease patients.

Bmc Neurology
Zainal Abidin, Shahidee S; Tan, Eng Liang EL; Chan, Soon-Choy SC; Jaafar, Ameerah A; Lee, Alex Xuen AX; Abd Hamid, Mohd Hamdi Noor MH; Abdul Murad, Nor Azian NA; Pakarul Razy, Nur Fadlina NF; Azmin, Shahrul S; Ahmad Annuar, Azlina A; Lim, Shen Yang SY; Cheah, Pike-See PS; Ling, King-Hwa KH; Mohamed Ibrahim, Norlinah N
Publication Date: 2015-04-22

Variant appearance in text: rs7301328
PubMed Link: 25896831
Variant Present in the following documents:
  • Main text
  • 12883_2015_Article_316.pdf
View BVdb publication page



Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics
Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A
Publication Date: 2014-12-11

Variant appearance in text: GRIN2B: P122P
PubMed Link: 25496518
Variant Present in the following documents:
  • 40246_2014_20_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: N/A
PubMed Link: 25390934
Variant Present in the following documents:
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: N/A
PubMed Link: 25333361
Variant Present in the following documents:
View BVdb publication page



Genetic polymorphisms affecting susceptibility to mercury neurotoxicity in children: summary findings from the Casa Pia Children's Amalgam clinical trial.

Neurotoxicology
Woods, James S JS; Heyer, Nicholas J NJ; Russo, Joan E JE; Martin, Michael D MD; Farin, Federico M FM
Publication Date: 2014-09

Variant appearance in text: rs7301328
PubMed Link: 25109824
Variant Present in the following documents:
  • Main text
View BVdb publication page