Publications:

Identification of heritable rare variants associated with early-stage lung adenocarcinoma risk.

Translational Lung Cancer Research

Fu, Rui R; Zhang, Jia-Tao JT; Chen, Rong-Rong RR; Li, Hong H; Tai, Zai-Xian ZX; Lin, Hao-Xiang HX; Su, Jian J; Chu, Xiang-Peng XP; Zhang, Chao C; Qiu, Zhen-Bin ZB; Chen, Zi-Hao ZH; Tang, Wen-Fang WF; Dong, Song S; Yang, Xue-Ning XN; Zhang, Guo-Qing GQ; Zhao, Guo-Ping GP; Wu, Yi-Long YL; Zhong, Wen-Zhao WZ

Publication Date: 2022-04

Variant appearance in text: rs61749446

PubMed Link: 35529798

Variant Present in the following documents:

• Main text
• tlcr-11-04-509.pdf

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Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.

Clinical Ophthalmology (Auckland, N.Z.)

Bryant, Laura L; Lozynska, Olga O; Maguire, Albert M AM; Aleman, Tomas S TS; Bennett, Jean J

Publication Date: 2018

Variant appearance in text: rs61749446

PubMed Link: 29343940

Variant Present in the following documents:

• Main text
• opth-12-049.pdf

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: N/A

PubMed Link: 29273096

Variant Present in the following documents:

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Correlation of Macular Focal Electroretinogram with Ellipsoid Zone Extension in Stargardt Disease.

Journal Of Ophthalmology

Abed, Edoardo E; Placidi, Giorgio G; Calandriello, Luigi L; Piccardi, Marco M; Campagna, Francesca F; Bertelli, Matteo M; Minnella, Angelo Maria AM; Savastano, Maria Cristina MC; Falsini, Benedetto B

Publication Date: 2017

Variant appearance in text: STGD1: Arg943Gly

PubMed Link: 28912967

Variant Present in the following documents:

• Main text
• JOPH2017-3643495.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: ABCA4: R943G

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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