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Q36040738-427A7CAA-4A4D-4680-A474-2356331DDB43
Q36040738-427A7CAA-4A4D-4680-A474-2356331DDB43
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36040738-427A7CAA-4A4D-4680-A474-2356331DDB43
Congenital myopathy caused by a novel missense mutation in the CFL2 gene.
P2860
Q36040738-427A7CAA-4A4D-4680-A474-2356331DDB43
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36040738-427A7CAA-4A4D-4680-A474-2356331DDB43
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wasDerivedFrom
f346b86c5930a5dd2857f35ed3ae43156ec31397
P2860
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.