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The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level. [electronic resource] by
- Aukrust, Ingvild
- Jansson, Ragnhild W
- Bredrup, Cecilie
- Rusaas, Hilde E
- Berland, Siren
- Jørgensen, Agnete
- Haug, Marte G
- Rødahl, Eyvind
- Houge, Gunnar
- Knappskog, Per M
Producer: 20170816
In:
Acta ophthalmologica vol. 95
Availability: No items available.
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First Complete Genome Sequence of the Dutch Veterinary Coxiella burnetii Strain NL3262, Originating from the Largest Global Q Fever Outbreak, and Draft Genome Sequence of Its Epidemiologically Linked Chronic Human Isolate NLhu3345937. [electronic resource] by
- Kuley, Runa
- Smith, Hilde E
- Janse, Ingmar
- Harders, Frank L
- Baas, Frank
- Schijlen, Elio
- Nabuurs-Franssen, Marrigje H
- Smits, Mari A
- Roest, Hendrik I J
- Bossers, Alex
Producer: 20160422
In:
Genome announcements vol. 4
Availability: No items available.
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