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Q34380805-53312274-17D2-4F7A-96BD-1D801966D47B
Q34380805-53312274-17D2-4F7A-96BD-1D801966D47B
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Statement
http://www.wikidata.org/entity/statement/Q34380805-53312274-17D2-4F7A-96BD-1D801966D47B
An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
P2860
Q34380805-53312274-17D2-4F7A-96BD-1D801966D47B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34380805-53312274-17D2-4F7A-96BD-1D801966D47B
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wasDerivedFrom
3dc53cd8a8580d7a357cac707a84b5fca7524de0
P2860
A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease.