Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.A357_E359del0
Back to variants list

DES

NM_001927.4:p.A357_E359del0

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

39252922 (PubMed )
Supplement: media-1.docx

Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.

Potulska-Chromik A et al.

Journal of Clinical Medicine, 2021

Two desmin gene mutations associated with myofibrillar myopathies in Polish families.

Fichna JP et al.

Plos One, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."