Varaico: Literature-Extracted Genetic Variants

Gene:DSP
Variant:p.A2148T
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DSP

NM_004415.4:p.A2148T

Associated Papers

Age and Sex Differences in the Genetics of Cardiomyopathy.

Akinrinade O et al.

Journal of Cardiovascular Translational Research, 2023

37477868 (PubMed )
Supplement: 12265_2023_10411_MOESM1_ESM.xlsx › Table_S2_All_variants

Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.

Grondin S et al.

American Journal of Medical Genetics. Part A, 2020

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Ware JS et al.

Journal of the American College of Cardiology, 2018

29773157 (PubMed )
Supplement: mmc2.xlsx › Final_VariantList_Rare_ACMonly
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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."