Publications:

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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: NPAS2: 1282+37A>C; rs2305159

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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: rs2305159

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Evaluation of the Association Between Genetic Variants in Circadian Rhythm Genes and Posttraumatic Stress Symptoms Identifies a Potential Functional Allele in the Transcription Factor TEF.

Frontiers In Psychiatry

Linnstaedt, Sarah D SD; Pan, Yue Y; Mauck, Matthew C MC; Sullivan, Jenyth J; Zhou, Christine Y CY; Jung, Lindsey L; Rueckeis, Cathleen A CA; Blount, Jameson D JD; Carson, Matthew S MS; Tungate, Andrew S AS; Kurz, Michael C MC; Hendry, Phyllis L PL; Lewandowski, Christopher C; D'Anza, Teresa T; Datner, Elizabeth E; Bell, Kathy K; Lechner, Megan M; Shupp, Jeffrey W JW; Cairns, Bruce A BA; McLean, Samuel A SA

Publication Date: 2018

Variant appearance in text: rs2305159

PubMed Link: 30498461

Variant Present in the following documents:

• Main text
• fpsyt-09-00597.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: NPAS2: 1282+37A>C; rs2305159

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

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Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia.

International Journal Of Cancer

Gu, Fangyi F; Zhang, Han H; Hyland, Paula L PL; Berndt, Sonja S; Gapstur, Susan M SM; Wheeler, William W; Ellipse Consortium, The T; Amos, Christopher I CI; Bezieau, Stephane S; Bickeböller, Heike H; Brenner, Hermann H; Brennan, Paul P; Chang-Claude, Jenny J; Conti, David V DV; Doherty, Jennifer Anne JA; Gruber, Stephen B SB; Harrison, Tabitha A TA; Hayes, Richard B RB; Hoffmeister, Michael M; Houlston, Richard S RS; Hung, Rayjean J RJ; Jenkins, Mark A MA; Kraft, Peter P; Lawrenson, Kate K; McKay, James J; Markt, Sarah S; Mucci, Lorelei L; Phelan, Catherine M CM; Qu, Conghui C; Risch, Angela A; Rossing, Mary Anne MA; Wichmann, H-Erich HE; Shi, Jianxin J; Schernhammer, Eva E; Yu, Kai K; Landi, Maria Teresa MT; Caporaso, Neil E NE

Publication Date: 2017-11-01

Variant appearance in text: rs2305159

PubMed Link: 28699174

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effects of circadian clock genes and environmental factors on cognitive aging in old adults in a Taiwanese population.

Oncotarget

Lin, Eugene E; Kuo, Po-Hsiu PH; Liu, Yu-Li YL; Yang, Albert C AC; Kao, Chung-Feng CF; Tsai, Shih-Jen SJ

Publication Date: 2017-04-11

Variant appearance in text: rs2305159

PubMed Link: 28412756

Variant Present in the following documents:

• Main text
• oncotarget-08-24088.pdf

View BVdb publication page

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Genetic association study of circadian genes with seasonal pattern in bipolar disorders.

Scientific Reports

Geoffroy, Pierre Alexis PA; Lajnef, Mohamed M; Bellivier, Frank F; Jamain, Stéphane S; Gard, Sébastien S; Kahn, Jean-Pierre JP; Henry, Chantal C; Leboyer, Marion M; Etain, Bruno B

Publication Date: 2015-05-19

Variant appearance in text: rs2305159

PubMed Link: 25989161

Variant Present in the following documents:

• Main text
• srep10232.pdf

View BVdb publication page

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Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.

Diabetes

Takeuchi, Fumihiko F; Serizawa, Masakuni M; Yamamoto, Ken K; Fujisawa, Tomomi T; Nakashima, Eitaro E; Ohnaka, Keizo K; Ikegami, Hiroshi H; Sugiyama, Takao T; Katsuya, Tomohiro T; Miyagishi, Makoto M; Nakashima, Naoki N; Nawata, Hajime H; Nakamura, Jiro J; Kono, Suminori S; Takayanagi, Ryoichi R; Kato, Norihiro N

Publication Date: 2009-07

Variant appearance in text: rs2305159

PubMed Link: 19401414

Variant Present in the following documents:

• supp_db08-1494_db08-1494_online_appendix.pdf

View BVdb publication page

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