Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.R73Q
Back to variants list

DES

NM_001927.4:p.R73Q

Associated Papers

Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Dellefave-Castillo LM et al.

Jama Cardiology, 2022

35947370 (PubMed )
Supplement: jamacardiol-e222455-s002.xlsx › Supplemental_Table3_rollup

Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.

Giesen N et al.

Haematologica, 2022

35045690 (PubMed )
Supplement: 2021_279360_GIESEN_TABS2_SUPPL.xlsx › somatic_small_functional_varian
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."