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Q35166263-C9E8EF20-5170-402D-8474-EF5E9EEFFC0D
Q35166263-C9E8EF20-5170-402D-8474-EF5E9EEFFC0D
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http://www.wikidata.org/entity/statement/Q35166263-C9E8EF20-5170-402D-8474-EF5E9EEFFC0D
Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.
P2860
Q35166263-C9E8EF20-5170-402D-8474-EF5E9EEFFC0D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35166263-C9E8EF20-5170-402D-8474-EF5E9EEFFC0D
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wasDerivedFrom
d145ac7c453894f8acb227749c2e23faab517306
P2860
Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.