Varaico: Literature-Extracted Genetic Variants

Gene:DES
Variant:p.D90A
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DES

NM_001927.4:p.D90A

Associated Papers

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S9

Genetic rodent models of amyotrophic lateral sclerosis.

Van Den Bosch L

Journal of Biomedicine & Biotechnology, 2011

Amyotrophic lateral sclerosis.

Wijesekera LC et al.

Orphanet Journal of Rare Diseases, 2009

Progress in the pathogenesis of amyotrophic lateral sclerosis.

Shaw CE et al.

Current Neurology and Neuroscience Reports, 2001

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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."