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Q46769258-1844289D-E783-476B-BEAD-F47744FEE978
Q46769258-1844289D-E783-476B-BEAD-F47744FEE978
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http://www.wikidata.org/entity/statement/Q46769258-1844289D-E783-476B-BEAD-F47744FEE978
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores.
P2860
Q46769258-1844289D-E783-476B-BEAD-F47744FEE978
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46769258-1844289D-E783-476B-BEAD-F47744FEE978
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wasDerivedFrom
5869dfa01aea00b0c3ab7083af72a59cc3782ae4
P2860
Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia.