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Sarcomaire

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Preview of NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy
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NRAP reduction rescues sarcomere defects in nebulin-related nemaline myopathy (NRAP-Reduction.pdf)

1.39 MBEN 11 pages
Nemaline myopathy (NM) is a rare neuromuscular disorder caused by mutations in 12 genes, with recessive mutations in nebulin (NEB) being the most common cause.
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PDF (2155-9880-S1.017-009.pdf)

263 KBEN 1 page
Hypertrophic cardiomyopathy (HCM) is a genetic disease of the heart muscle and the most common cause of sudden death in young people and athletes, caused by...
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