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Q48120299-40D23C93-36CB-4BBA-ADF6-472925AC1444
Q48120299-40D23C93-36CB-4BBA-ADF6-472925AC1444
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48120299-40D23C93-36CB-4BBA-ADF6-472925AC1444
Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.
P2860
Q48120299-40D23C93-36CB-4BBA-ADF6-472925AC1444
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48120299-40D23C93-36CB-4BBA-ADF6-472925AC1444
rank
NormalRank
type
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Statement
wasDerivedFrom
537618e6cd63c9a9b4a92a88d96c220f11043cf3
P2860
Congenital myasthenic syndromes due to mutations in ALG2 and ALG14.