Publications:

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A case of midbrain germinoma: A literature review for radiographic and clinical features.

Neuro-Oncology Advances

Miyake, Yohei Y; Tateishi, Kensuke K; Oshima, Akito A; Hongo, Takeshi T; Satomi, Kaishi K; Ichimura, Koichi K; Kato, Ayumi A; Iwashita, Hiromichi H; Utsunomiya, Daisuke D; Yamamoto, Tetsuya T

Publication Date: 2023

Variant appearance in text: rs4432245

PubMed Link: 37215953

Variant Present in the following documents:

• vdad043_suppl_supplementary_tables.xlsx, sheet 1

View BVdb publication page

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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: rs4432245

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2

View BVdb publication page

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The EIF2AK4/rs4594236 AG/GG Genotype Is a Hazard Factor of Immunoglobulin Therapy Resistance in Southern Chinese Kawasaki Disease Patients.

Frontiers In Genetics

Yu, Hongyan H; Liu, Fucheng F; Chen, Kaining K; Xu, Yufen Y; Wang, Yishuai Y; Fu, Lanyan L; Zhou, Huazhong H; Pi, Lei L; Che, Di D; Li, Hehong H; Gu, Xiaoqiong X

Publication Date: 2022

Variant appearance in text: rs4432245

PubMed Link: 35812738

Variant Present in the following documents:

• Main text
• fgene-13-868159.pdf

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: EIF2AK4: 4728+43T>C; rs4432245

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: rs4432245

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.

Molecular Cancer

Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L

Publication Date: 2021-02-23

Variant appearance in text: EIF2AK4: 4728+43T>C

PubMed Link: 33622313

Variant Present in the following documents:

• 12943_2021_1331_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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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: EIF2AK4: 4728+43T>C; rs4432245

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study.

Frontiers In Genetics

de Toro-Martín, Juan J; Guénard, Frédéric F; Bouchard, Claude C; Tremblay, Angelo A; Pérusse, Louis L; Vohl, Marie-Claude MC

Publication Date: 2019

Variant appearance in text: rs4432245

PubMed Link: 31649740

Variant Present in the following documents:

• DataSheet_1.pdf

View BVdb publication page

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A case of early diagnosis of pulmonary capillary hemangiomatosis in a worker with exposure to silica.

Bmc Pulmonary Medicine

Yeo, Chang Dong CD; Han, Deokjae D; Lee, Jongmin J; Chung, Woo-Baek WB; Jung, Jung Im JI; Lee, Kyo-Young KY; Kim, Tae-Jung TJ; Jang, Woori W; Kim, Myungshin M; Kang, Ji Young JY

Publication Date: 2019-07-23

Variant appearance in text: rs4432245

PubMed Link: 31337372

Variant Present in the following documents:

• Main text
• 12890_2019_Article_896.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: EIF2AK4: 4728+43T>C; rs4432245

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Impact of Genetic Variants on the Individual Potential for Body Fat Loss.

Nutrients

Cha, Soyeon S; Kang, Joon Ho JH; Lee, Jae-Hak JH; Kim, Jinki J; Kim, Heewon H; Yang, Yoon Jung YJ; Park, Woong-Yang WY; Kim, Jinho J

Publication Date: 2018-02-26

Variant appearance in text: rs4432245

PubMed Link: 29495392

Variant Present in the following documents:

• Main text
• nutrients-10-00266.pdf

View BVdb publication page

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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: rs4432245

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Genome wide association study: searching for genes underlying body mass index in the Chinese.

Biomedical And Environmental Sciences : Bes

Yang, Fang F; Chen, Xiang Ding XD; Tan, Li Jun LJ; Shen, Jie J; Li, Ding You DY; Zhang, Fang F; Sha, Bao Yong BY; Deng, Hong Wen HW

Publication Date: 2014-05

Variant appearance in text: rs4432245

PubMed Link: 24827717

Variant Present in the following documents:

• Main text

View BVdb publication page

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