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Q48492814-3DD13DC4-A1AF-44DF-9192-850D6B4C9AC3
Q48492814-3DD13DC4-A1AF-44DF-9192-850D6B4C9AC3
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http://www.wikidata.org/entity/statement/Q48492814-3DD13DC4-A1AF-44DF-9192-850D6B4C9AC3
Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness.
P2860
Q48492814-3DD13DC4-A1AF-44DF-9192-850D6B4C9AC3
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48492814-3DD13DC4-A1AF-44DF-9192-850D6B4C9AC3
rank
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type
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wasDerivedFrom
c9b2d0efe5be004fe8ee284935bf86590d8f8cb6
P2860
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.