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publicationName European journal of human genetics : EJHG
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bibliographicCitation Mayer AK, Rohrschneider K, Strom TM, Glöckle N, Kohl S, Wissinger B, Weisschuh N. Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation. European Journal of Human Genetics. 2015 Jul 08;24(3):459–62. doi: 10.1038/ejhg.2015.144.
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date 2015-07-08-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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title Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation
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