ArticleHuman mutation2026
Functional Characterization of an Immortalized Human Muscle Cell Line Carrying the Heterozygous RyR1 p.T4288_A4290dup Associated With Rhabdomyolysis.
Article in Human mutation, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Authors and funding
11 authors.
Funding
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Abstract
The ryanodine receptor 1 plays an essential role in skeletal muscle by releasing the calcium necessary for contraction from the sarcoplasmic reticulum and mutations in
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Registered trials
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