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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 4, 2024. (Total: 232145Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Retinal Dystrophies and PRPF31[original query]
Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing.
Scientific reports 2018 Sep 8 (1): 13312.
González-Del Pozo María, Martín-Sánchez Marta, Bravo-Gil Nereida, Méndez-Vidal Cristina, Chimenea Ángel, Rodríguez-de la Rúa Enrique, Borrego Salud, Antiñolo Guiller
Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.
PloS one 2018 12 13 (12): e0207958.
Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet
Clinical and Genetic Findings in a Cohort of Patients with PRPF31-associated Retinal Dystrophy.
American journal of ophthalmology 2024 6 .
Jan-Philipp Bodenbender, Leon Bethge, Katarina Stingl, Pascale Mazzola, Tobias Haack, Saskia Biskup, Bernd Wissinger, Nicole Weisschuh, Susanne Kohl, Laura Kühlewe
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