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Q47882916-7E6C6A6D-4892-4C4F-96A0-D3C3D631CD57
Q47882916-7E6C6A6D-4892-4C4F-96A0-D3C3D631CD57
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http://www.wikidata.org/entity/statement/Q47882916-7E6C6A6D-4892-4C4F-96A0-D3C3D631CD57
Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.
P2860
Q47882916-7E6C6A6D-4892-4C4F-96A0-D3C3D631CD57
BestRank
Statement
http://www.wikidata.org/entity/statement/Q47882916-7E6C6A6D-4892-4C4F-96A0-D3C3D631CD57
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wasDerivedFrom
d363eac76ef68e1dcef2b79ea0998b476cf90365
P2860
Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations.