Bruun, Gitte Hoffmann
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6

The prevalent deep intronic c. 639 + 919 G > A GLA mutation..:

Palhais, Bruno ; Dembic, Maja ; Sabaratnam, Rugivan...
Molecular Genetics and Metabolism.  119 (2016)  3 - p. 258-269 , 2016
 
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11

DeepCLIP:predicting the effect of mutations on protein-RNA ..:

Grønning, Alexander Gulliver Bjørnholt ; Doktor, Thomas Koed ; Larsen, Simon Jonas...
Grønning , A G B , Doktor , T K , Larsen , S J , Petersen , U S S , Holm , L L , Bruun , G H , Hansen , M B , Hartung , A-M , Baumbach , J & Andresen , B S 2020 , ' DeepCLIP : predicting the effect of mutations on protein-RNA binding with deep learning ' , Nucleic acids research , vol. 48 , no. 13 , pp. 7099-7118 . https://doi.org/10.1093/nar/gkaa530.  , 2020
 
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A pathogenic haplotype, common in Europeans, causes autosom..:

Grønskov, Karen ; Jespersgaard, Cathrine ; Bruun, Gitte Hoffmann...
https://orbit.dtu.dk/en/publications/cafe7302-04b0-4200-bd48-b362ae2fe42c.  , 2019
 
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13

Down-regulation of CK2α correlates with decreased expressio..:

Schaefer, Susanne ; Doktor, Thomas Koed ; Brøner Frederiksen, Sabrina...
Schaefer , S , Doktor , T K , Brøner Frederiksen , S , Chea , K , Hlavacova , M , Bruun , G H , Rabjerg , M , Andresen , B S , Dominguez , I & Guerra , B 2019 , ' Down-regulation of CK2α correlates with decreased expression levels of DNA replication minichromosome maintenance protein complex (MCM) genes ' , Scientific Reports , vol. 9 , no. 1 , 14581 . https://doi.org/10.1038/s41598-019-51056-5.  , 2019
 
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14

A pathogenic haplotype, common in Europeans, causes autosom..:

Grønskov, Karen ; Jespersgaard, Cathrine ; Bruun, Gitte Hoffmann...
Grønskov , K , Jespersgaard , C , Bruun , G H , Harris , P , Brøndum-Nielsen , K , Andresen , B S & Rosenberg , T 2019 , ' A pathogenic haplotype, common in Europeans, causes autosomal recessive albinism and uncovers missing heritability in OCA1 ' , Scientific Reports , vol. 9 , no. 1 , 645 . https://doi.org/10.1038/s41598-018-37272-5.  , 2019
 
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