Publications:

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Novel Alzheimer's disease risk variants identified based on whole-genome sequencing of APOE ε4 carriers.

Translational Psychiatry

Park, Jong-Ho JH; Park, Inho I; Youm, Emilia Moonkyung EM; Lee, Sejoon S; Park, June-Hee JH; Lee, Jongan J; Lee, Dong Young DY; Byun, Min Soo MS; Lee, Jun Ho JH; Yi, Dahyun D; Chung, Sun Ju SJ; Park, Kye Won KW; Choi, Nari N; Kim, Seong Yoon SY; Yoon, Woon W; An, Hoyoung H; Kim, Ki Woong KW; Choi, Seong Hye SH; Jeong, Jee Hyang JH; Kim, Eun-Joo EJ; Kang, Hyojin H; Lee, Junehawk J; Kim, Younghoon Y; Lee, Eunjung Alice EA; Seo, Sang Won SW; Na, Duk L DL; Kim, Jong-Won JW

Publication Date: 2021-05-19

Variant appearance in text: rs4147911

PubMed Link: 34011927

Variant Present in the following documents:

• Main text
• 41398_2021_Article_1412.pdf

View BVdb publication page

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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: rs4147911

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: ABCA7: 2269+34C>G; rs4147911

PubMed Link: 33503336

Variant Present in the following documents:

• CNR2-4-e1335-s003.xlsx, sheet 2

View BVdb publication page

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Validation of a priori candidate Alzheimer's disease SNPs with brain amyloid-beta deposition.

Scientific Reports

Vacher, Michael M; Porter, Tenielle T; Villemagne, Victor L VL; Milicic, Lidija L; Peretti, Madeline M; Fowler, Christopher C; Martins, Ralph R; Rainey-Smith, Stephanie S; Ames, David D; Masters, Colin L CL; Rowe, Christopher C CC; Doecke, James D JD; Laws, Simon M SM

Publication Date: 2019-11-19

Variant appearance in text: rs4147911

PubMed Link: 31745181

Variant Present in the following documents:

• Main text
• 41598_2019_Article_53604.pdf

View BVdb publication page

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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: ABCA7: 2269+34C>G; rs4147911

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Connecting the dots: potential of data integration to identify regulatory SNPs in late-onset Alzheimer's disease GWAS findings.

Plos One

Rosenthal, Samantha L SL; Barmada, M Michael MM; Wang, Xingbin X; Demirci, F Yesim FY; Kamboh, M Ilyas MI

Publication Date: 2014

Variant appearance in text: rs4147911

PubMed Link: 24743338

Variant Present in the following documents:

• Main text
• pone.0095152.pdf

View BVdb publication page

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