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2267
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2268
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2269
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2270
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2271
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2272
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2273
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2274
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2275
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2276
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2277
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2279
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2280
[ "White", "-", "tailed", "deer", "(", "WTD", ")", "are", "abundant", "mammals", "widely", "distributed", "across", "the", "United", "States", "." ]
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2281
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2282
[ "Evidence", "of", "West", "Nile", "virus", "(", "WNV", ")", "antibody", "in", "WTD", "has", "been", "reported", "previously", "in", "several", "states", "." ]
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2283
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2284
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2285
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2286
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2287
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2288
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2289
[ "Interestingly", ",", "3.1", "%", "(", "n", "=", "20", ")", "of", "the", "samples", "were", "positive", "for", "Flavivirus", "IgG", "antibody", "by", "ELISA", ",", "but", "negative", "for", "SLEV", "and", "WNV", "antibodies", ",", "suggesting", "that", "other", "Flaviviruses", "may", "be", "circulating", "among", "WTD", "in", "Texas", "." ]
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2290
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2291
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2292
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2294
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2295
[ "The", "primary", "endpoint", "was", "all", "-", "cause", "mortality", "." ]
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2296
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2297
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2298
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2299
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