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Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores |
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期刊:Human Mutation 作者:Nicole Monnier; Isabelle Marty; Julien Fauré; Claudia Castiglioni; Claude Desnuelle; et al 出版日期:2008-02-01 |
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(2025-6-4)