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Q38749268-38F6CE3E-2377-4028-8EDE-76F90E73ADDD
Q38749268-38F6CE3E-2377-4028-8EDE-76F90E73ADDD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38749268-38F6CE3E-2377-4028-8EDE-76F90E73ADDD
RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.
P2860
Q38749268-38F6CE3E-2377-4028-8EDE-76F90E73ADDD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38749268-38F6CE3E-2377-4028-8EDE-76F90E73ADDD
rank
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type
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Statement
wasDerivedFrom
aff907facd0ceba8c286bddb42453eed2be04cf4
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.