Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A213_D214Splc
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DES

NM_001927.4:p.A213_D214Splc

Associated Papers

Natural History, Phenotype Spectrum and Clinical Outcomes of Desmin (DES)-Associated Cardiomyopathy.

Asatryan B et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications.

Geist Hauserman J et al.

Hgg Advances, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."