t/gene-des

DES gene

Discuss publications and research concerning the DES gene.

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Related literature

Cardiomyopathy-Associated Mutations in a Hotspot Region at the C-Terminal Part of Desmin Coil-2 Domain Impair the Intermediate Filament Assembly.
DES
Desmin c.322G>A variant is associated with cardiomyopathy: a case series.
DES
Novel in-frame variant in DES (p.Glu353dup) causes myofibrillar myopathy: clinical, in silico and functional studies.
DES
Identification of the differences in molecular networks between idiopathic pulmonary fibrosis and lung squamous cell carcinoma using machine learning.
DES
Natural History, Phenotype Spectrum, and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.
DES
Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C-Terminus of segment 2B.
DES
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.
DES
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
DES
Generation of iPSC line from desmin-related cardiomyopathy patient carrying splice site mutation of DES gene.
DES
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
DES

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