Publications:

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Methodological quality assessment of genetic studies on brain arteriovenous malformation related hemorrhage: A cross-sectional study.

Frontiers In Genetics

Jiang, Junhao J; Qin, Zhuo Z; Yan, Junxia J; Liu, Junyu J

Publication Date: 2023

Variant appearance in text: rs915895

PubMed Link: 37065486

Variant Present in the following documents:

• Main text
• fgene-14-1123898.pdf

View BVdb publication page

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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: rs915895

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: NOTCH4: 451+71A>G; rs915895

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Recent Advances and the Potential for Clinical Use of Autofluorescence Detection of Extra-Ophthalmic Tissues.

Molecules (Basel, Switzerland)

Wizenty, Jonas J; Schumann, Teresa T; Theil, Donna D; Stockmann, Martin M; Pratschke, Johann J; Tacke, Frank F; Aigner, Felix F; Wuensch, Tilo T

Publication Date: 2020-04-30

Variant appearance in text: rs915895

PubMed Link: 32365790

Variant Present in the following documents:

• Main text
• molecules-25-02095.pdf

View BVdb publication page

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Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine

Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH

Publication Date: 2018-12

Variant appearance in text: rs915895

PubMed Link: 30378292

Variant Present in the following documents:

• CAM4-7-6308-s006.xlsx, sheet 1

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: NOTCH4: 451+71A>G; rs915895

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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Advanced glycation endproducts and their receptor in different body compartments in COPD.

Respiratory Research

Hoonhorst, Susan J M SJ; Lo Tam Loi, Adèle T AT; Pouwels, Simon D SD; Faiz, Alen A; Telenga, Eef D ED; van den Berge, Maarten M; Koenderman, Leo L; Lammers, Jan-Willem J JW; Boezen, H Marike HM; van Oosterhout, Antoon J M AJ; Lodewijk, Monique E ME; Timens, Wim W; Postma, Dirkje S DS; Ten Hacken, Nick H T NH

Publication Date: 2016-04-26

Variant appearance in text: rs915895

PubMed Link: 27117828

Variant Present in the following documents:

• Main text
• 12931_2016_Article_363.pdf

View BVdb publication page

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Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity

Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J

Publication Date: 2014

Variant appearance in text: rs915895

PubMed Link: 24784026

Variant Present in the following documents:

• NIHMS580846-supplement-1.xlsx, sheet 3
• NIHMS580846-supplement-1.xlsx, sheet 2

View BVdb publication page

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A novel statistic for genome-wide interaction analysis.

Plos Genetics

Wu, Xuesen X; Dong, Hua H; Luo, Li L; Zhu, Yun Y; Peng, Gang G; Reveille, John D JD; Xiong, Momiao M

Publication Date: 2010-09-23

Variant appearance in text: rs915895

PubMed Link: 20885795

Variant Present in the following documents:

• Main text
• pgen.1001131.pdf

View BVdb publication page

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