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Sabrina Brøner
Sabrina Brøner
Item
http://www.wikidata.org/entity/Q88011037
Q88011037
about
Absence of an intron splicing silencer in porcine Smn1 intron 7 confers immunity to the exon skipping mutation in human SMN2.
The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
P50
Q35180737-C685382D-87ED-490D-BF4A-FE3BEDB97366
Q54765326-157AFF3C-278A-43A5-A631-BE6AD96AFB6E
P50
Sabrina Brøner
Item
http://www.wikidata.org/entity/Q88011037
description
researcher
@en
name
Sabrina Brøner
@en
type
Item
label
Sabrina Brøner
@en
prefLabel
Sabrina Brøner
@en
P108
Q88011037-802C57E7-445F-40A9-9579-575A4794D626
P31
Q88011037-39B598A6-D8C2-492F-8E7B-0BC0CAA14B3F
P496
Q88011037-C67E11C0-7001-46F3-BEBF-2F07035AC0A7
P496
0000-0002-0508-2434
P108
University of Southern Denmark
P31
Afgan
P496
0000-0002-0508-2434
http://www.w3.org/2001/XMLSchema#string