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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 4, 2023. (Total: 217641Documents)
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Records 1 - 2 (of 2 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
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