CLU c.789T>C ;(p.H263=)

Variant ID: 8-27462481-A-G

NM_001831.3(CLU):c.789T>C;(p.H263=)

This variant was identified in 44 publications

View GRCh38 version.




Publications:


Association study of selenium-related gene polymorphisms with geriatric depression in China.

Medicine
Liu, Yu Y; Wang, Liqun L; Wang, Zhizhong Z; He, Shulan S
Publication Date: 2023-04-25

Variant appearance in text: rs7982
PubMed Link: 37115082
Variant Present in the following documents:
  • Main text
  • medi-102-e33594.pdf
View BVdb publication page



Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: CLU: 789T>C; His263His; rs7982
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
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: CLU: H263H
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM2_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
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: CLU: H263H
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Examining SNP-SNP interactions and risk of clinical outcomes in colorectal cancer using multifactor dimensionality reduction based methods.

Frontiers In Genetics
Curtis, Aaron A; Yu, Yajun Y; Carey, Megan M; Parfrey, Patrick P; Yilmaz, Yildiz E YE; Savas, Sevtap S
Publication Date: 2022

Variant appearance in text: rs7982
PubMed Link: 35991579
Variant Present in the following documents:
  • Main text
  • fgene-13-902217.pdf
View BVdb publication page



Allele-specific analysis reveals exon- and cell-type-specific regulatory effects of Alzheimer's disease-associated genetic variants.

Translational Psychiatry
He, Liang L; Loika, Yury Y; Kulminski, Alexander M AM
Publication Date: 2022-04-18

Variant appearance in text: rs7982
PubMed Link: 35436980
Variant Present in the following documents:
  • Main text
  • 41398_2022_Article_1913.pdf
View BVdb publication page



Association Between Common Variants of APOE, ABCA7, A2M, BACE1, and Cerebrospinal Fluid Biomarkers in Alzheimer's Disease: Data from the PUMCH Dementia Cohort.

Journal Of Alzheimer'S Disease : Jad
Dong, Liling L; Mao, Chenhui C; Liu, Caiyan C; Li, Jie J; Huang, Xinying X; Wang, Jie J; Lei, Dan D; Chu, Shanshan S; Sha, Longze L; Xu, Qi Q; Peng, Bin B; Cui, Liying L; Gao, Jing J
Publication Date: 2022

Variant appearance in text: CLU: 789T>C; H263H; rs7982
PubMed Link: 34958020
Variant Present in the following documents:
  • jad-85-jad215067-s001.pdf
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: CLU: 789T>C; H263H; rs7982
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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: CLU: His263His; rs7982
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer's disease.

Translational Psychiatry
He, Liang L; Loika, Yury Y; Park, Yongjin Y; , ; Bennett, David A DA; Kellis, Manolis M; Kulminski, Alexander M AM; ,
Publication Date: 2021-02-26

Variant appearance in text: rs7982
PubMed Link: 33637690
Variant Present in the following documents:
  • Main text
  • 41398_2021_Article_1263.pdf
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: CLU: 789T>C; H263H; rs7982
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



Screening for functional transcriptional and splicing regulatory variants with GenIE.

Nucleic Acids Research
Cooper, Sarah E SE; Schwartzentruber, Jeremy J; Bello, Erica E; Coomber, Eve L EL; Bassett, Andrew R AR
Publication Date: 2020-12-16

Variant appearance in text: rs7982
PubMed Link: 33152068
Variant Present in the following documents:
  • gkaa960.pdf
View BVdb publication page



Alternative Splicing Regulation of an Alzheimer's Risk Variant in CLU.

International Journal Of Molecular Sciences
Han, Seonggyun S; Nho, Kwangsik K; Lee, Younghee Y
Publication Date: 2020-09-25

Variant appearance in text: rs7982
PubMed Link: 32992916
Variant Present in the following documents:
  • Main text
  • ijms-21-07079.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: CLU: H263H; rs7982
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



Circulating Glutamine and Alzheimer's Disease: A Mendelian Randomization Study.

Clinical Interventions In Aging
Adams, Charleen D CD
Publication Date: 2020

Variant appearance in text: rs7982
PubMed Link: 32103921
Variant Present in the following documents:
  • Main text
  • cia-15-185.pdf
View BVdb publication page



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: CLU: 789T>C; H263H; rs7982
PubMed Link: 32046637
Variant Present in the following documents:
  • 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1
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: CLU: H263H; rs7982
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Clusterin in Alzheimer's Disease: Mechanisms, Genetics, and Lessons From Other Pathologies.

Frontiers In Neuroscience
Foster, Evangeline M EM; Dangla-Valls, Adrià A; Lovestone, Simon S; Ribe, Elena M EM; Buckley, Noel J NJ
Publication Date: 2019

Variant appearance in text: rs7982
PubMed Link: 30872998
Variant Present in the following documents:
  • Main text
  • fnins-13-00164.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: APOJ: His263His; rs7982
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
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: rs7982
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs.

Neurobiology Of Aging
Katsumata, Yuriko Y; Nelson, Peter T PT; Estus, Steven S; , ; Fardo, David W DW
Publication Date: 2019-02

Variant appearance in text: rs7982
PubMed Link: 30448613
Variant Present in the following documents:
  • Main text
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: CLU: 789T>C; rs7982
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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: CLU: 789T>C; H263H; rs7982
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 7
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 6
View BVdb publication page



Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.

Frontiers In Molecular Neuroscience
Sun, Qiying Q; Xie, Nina N; Tang, Beisha B; Li, Rena R; Shen, Yong Y
Publication Date: 2017

Variant appearance in text: rs7982
PubMed Link: 29056900
Variant Present in the following documents:
  • Main text
  • fnmol-10-00319.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs7982
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Association between clusterin gene polymorphism rs11136000 and late-onset Alzheimer's disease susceptibility: A review and meta-analysis of case-control studies.

Experimental And Therapeutic Medicine
Du, Wenjin W; Tan, Jiping J; Xu, Wei W; Chen, Jinwen J; Wang, Luning L
Publication Date: 2016-11

Variant appearance in text: rs7982
PubMed Link: 27882096
Variant Present in the following documents:
  • Main text
  • etm-12-05-2915.pdf
View BVdb publication page



Effect of CLU genetic variants on cerebrospinal fluid and neuroimaging markers in healthy, mild cognitive impairment and Alzheimer's disease cohorts.

Scientific Reports
Tan, Lin L; Wang, Hui-Fu HF; Tan, Meng-Shan MS; Tan, Chen-Chen CC; Zhu, Xi-Chen XC; Miao, Dan D; Yu, Wan-Jiang WJ; Jiang, Teng T; Tan, Lan L; Yu, Jin-Tai JT; ,
Publication Date: 2016-05-27

Variant appearance in text: rs7982
PubMed Link: 27229352
Variant Present in the following documents:
  • Main text
  • srep26027.pdf
View BVdb publication page



Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
Publication Date: 2015-12-08

Variant appearance in text: CLU: H263H; rs7982
PubMed Link: 26549847
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
  • mmc3.xlsx, sheet 1
  • mmc3.xlsx, sheet 2
View BVdb publication page



A potential endophenotype for Alzheimer's disease: cerebrospinal fluid clusterin.

Neurobiology Of Aging
Deming, Yuetiva Y; Xia, Jian J; Cai, Yefei Y; Lord, Jenny J; Holmans, Peter P; Bertelsen, Sarah S; Holtzman, David D; Morris, John C JC; Bales, Kelly K; Pickering, Eve H EH; Kauwe, John J; Goate, Alison A; Cruchaga, Carlos C; ,
Publication Date: 2016-01

Variant appearance in text: rs7982
PubMed Link: 26545630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.

Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
Publication Date: 2015-10-13

Variant appearance in text: rs7982
PubMed Link: 26440892
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: CLU: H263H; rs7982
PubMed Link: 25944692
Variant Present in the following documents:
  • oncotarget-06-15375-s005.xlsx, sheet 2
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: CLU: H263H
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: CLU: H263H; rs7982
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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: CLU: H263H
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s002.xls, sheet 3
  • pone.0109576.s001.xls, sheet 3
  • pone.0109576.s003.xls, sheet 3
View BVdb publication page



Alzheimer's disease risk genes and mechanisms of disease pathogenesis.

Biological Psychiatry
Karch, Celeste M CM; Goate, Alison M AM
Publication Date: 2015-01-01

Variant appearance in text: rs7982
PubMed Link: 24951455
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: rs7982
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
  • cas0105-0202-SD3.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: rs7982
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Expression of novel Alzheimer's disease risk genes in control and Alzheimer's disease brains.

Plos One
Karch, Celeste M CM; Jeng, Amanda T AT; Nowotny, Petra P; Cady, Janet J; Cruchaga, Carlos C; Goate, Alison M AM
Publication Date: 2012

Variant appearance in text: rs7982
PubMed Link: 23226438
Variant Present in the following documents:
  • Main text
View BVdb publication page



dsPIG: a tool to predict imprinted genes from the deep sequencing of whole transcriptomes.

Bmc Bioinformatics
Li, Hua H; Su, Xiao X; Gallegos, Juan J; Lu, Yue Y; Ji, Yuan Y; Molldrem, Jeffrey J JJ; Liang, Shoudan S
Publication Date: 2012-10-19

Variant appearance in text: rs7982
PubMed Link: 23083219
Variant Present in the following documents:
  • Main text
  • 1471-2105-13-271.pdf
View BVdb publication page



Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk.

Molecular Neurodegeneration
Bettens, Karolien K; Brouwers, Nathalie N; Engelborghs, Sebastiaan S; Lambert, Jean-Charles JC; Rogaeva, Ekaterina E; Vandenberghe, Rik R; Le Bastard, Nathalie N; Pasquier, Florence F; Vermeulen, Steven S; Van Dongen, Jasper J; Mattheijssens, Maria M; Peeters, Karin K; Mayeux, Richard R; St George-Hyslop, Peter P; Amouyel, Philippe P; De Deyn, Peter P PP; Sleegers, Kristel K; Van Broeckhoven, Christine C
Publication Date: 2012-01-16

Variant appearance in text: rs7982
PubMed Link: 22248099
Variant Present in the following documents:
  • 1750-1326-7-3.pdf
View BVdb publication page