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Q33905203-D2EF29B8-FB09-4527-9ACE-D7D94BF8FE7C
Q33905203-D2EF29B8-FB09-4527-9ACE-D7D94BF8FE7C
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http://www.wikidata.org/entity/statement/Q33905203-D2EF29B8-FB09-4527-9ACE-D7D94BF8FE7C
New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
P2860
Q33905203-D2EF29B8-FB09-4527-9ACE-D7D94BF8FE7C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33905203-D2EF29B8-FB09-4527-9ACE-D7D94BF8FE7C
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wasDerivedFrom
2c57def68c770d98ae30cbf7b993909be55714c9
P2860
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation