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New disease allele and de novo mutation indicate mutational vulnerability of titin exon 343 in hereditary myopathy with early respiratory failure

Titin Exon 343Rare DiseasesMendelian DisorderGenetic DisorderGeneticsPathologyHereditary MyopathyMolecular GeneticsNew Disease AlleleDisease Gene IdentificationMedicineInborn Error Of ImmunityClinical Genetics