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Boolean: (bicycle AND helmet) OR (head AND protection) (always group AND in parenthesis)
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journal:(Molecular AND Vision) AND title:(A AND splice-site AND variant AND in AND the AND lncRNA AND gene AND RP1-140A9.1 AND cosegregates AND in AND the AND large AND Volkmann AND cataract AND family)

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10 items by relevance
1 Journal article

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

Eiberg, Hans; Mikkelsen, Annemette F.; Bak, Mads; Tommerup, Niels; Lund, Allan M.; Wenzel, Anne; et al. (4 more)

Molecular Vision — 2019, Volume 25, pp. 1-11

. The identified mutation, rs763295804, affects the donor splice site in the long non-coding RNA gene RP1–140A9.1 (ENSG00000231050). The gene including splice-site junctions is conserved in primates but not in other mammalian genomes, and two alternative transcripts were shown with RT–PCR. One of these transcripts

Year: 2019

Language: Undetermined

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icnljm bpdgf keaho
2 Journal article

A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

Eiberg, Hans; Mikkelsen, Annemette F.; Bak, Mads; Tommerup, Niels; Lund, Allan M.; Wenzel, Anne; et al. (4 more)

Molecular Vision — 2019, Volume 25, pp. 1-11

(LOD) score of Z = 21.67. The identified mutation, rs763295804, affects the donor splice site in the long non-coding RNA gene RP1-140A9.1 (ENSG00000231050). The gene including splice-site junctions is conserved in primates but not in other mammalian genomes, and two alternative transcripts were shown

Year: 2019

Language: English

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ehi b jmlfga cpdonk

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