Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.K109R
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DES

NM_001927.4:p.K109R

Associated Papers

Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.

Gonzalez-Quereda L et al.

Genes, 2020

32403337 (PubMed )
Supplement: genes-11-00539-s001.pdf

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.

Klauke B et al.

Plos One, 2017

29253866 (PubMed )
Supplement: pone.0189489.s006.docx
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