Global ETD Search
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Showing 1 to 1 of 1 for “"HMERF"”.
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Protein interaction studies on the titin A150 domain using proximity-dependent biotinylation
… Myopathy with Early Respiratory Failure (HMERF), with the most prevalent disease-causing variant being the c.95134T>C (p.C31712R) variant. HMERF is characterized by weakness in proximal and distal skeletal muscles and severe, life-threatening, respiratory insufficiency. Despite its …