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Q54977127-4CEA8DDE-3F6B-4210-9955-1310867D6D6C
Q54977127-4CEA8DDE-3F6B-4210-9955-1310867D6D6C
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Statement
http://www.wikidata.org/entity/statement/Q54977127-4CEA8DDE-3F6B-4210-9955-1310867D6D6C
A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.
P2860
Q54977127-4CEA8DDE-3F6B-4210-9955-1310867D6D6C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54977127-4CEA8DDE-3F6B-4210-9955-1310867D6D6C
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wasDerivedFrom
eada7336effc25426f074832c44b32c3ba913451
P2860
A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.