Varaico: Literature-Extracted Genetic Variants

Gene:GET3
Variant:p.Q305*
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GET3

NM_004317.4:p.Q305*

Associated Papers

ASNA1 is essential for cardiac development and function by regulating tail-anchored protein stability and vesicular transport in cardiomyocytes.

Feng W et al.

Plos Genetics, 2025

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies.

Lipov A et al.

Nature Cardiovascular Research, 2023

Genetic Evaluation of A Nation-Wide Dutch Pediatric DCM Cohort: The Use of Genetic Testing in Risk Stratification.

van der Meulen MH et al.

Circulation. Genomic and Precision Medicine, 2022

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy.

Verhagen JMA et al.

Circulation. Genomic and Precision Medicine, 2019

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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."