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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Sep 22, 2023. (Total: 221327Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Hypopigmentation and OA1[original query]
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
Molecular vision 2011 17 .
Preising MN, Forster H, Gonser M, Lorenz B
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Journal of human genetics 2016 Oct .
Mauri Lucia, Manfredini Emanuela, Del Longo Alessandra, Veniani Emanuela, Scarcello Manuela, Terrana Roberta, Radaelli Adriano Egidio, Calò Donata, Mingoia Giuseppe, Rossetti Antonella, Marsico Giovanni, Mazza Marco, Gesu Giovanni Pietro, Cristina Patrosso Maria, Penco Silvana, Piozzi Elena, Primignani Pao
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