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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Disease and TOPORS[original query]
Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.
Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61.
Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Molecular vision 2013 19 654-64.
de Sousa Dias Miguel, Hernan Imma, Pascual Beatriz, Borràs Emma, Mañé Begoña, Gamundi Maria José, Carballo Migu
A mutational comparison of adult and adolescent and young adult (AYA) colon cancer.
Cancer 2017 Nov .
Tricoli James V, Boardman Lisa A, Patidar Rajesh, Sindiri Sivasish, Jang Jin S, Walsh William D, McGregor Paul M, Camalier Corinne E, Mehaffey Michele G, Furman Wayne L, Bahrami Armita, Williams P Mickey, Lih Chih-Jian, Conley Barbara A, Khan Jav
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