Varaico: Literature-Extracted Genetic Variants

Gene:DCHS1
Variant:p.A2464P
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DCHS1

NM_003737.4:p.A2464P

Associated Papers

Early-onset multivalvular disease caused by a missense variant in lamin A/C.

Janin A et al.

Hgg Advances, 2025

40783787 (PubMed )
Supplement: mmc1.pdf

The Potential of Intertwining Gene Diagnostics and Surgery for Mitral Valve Prolapse.

Iske J et al.

Journal of Clinical Medicine, 2023

Genetic background of mitral valve prolapse.

Guicciardi NA et al.

Reviews in Cardiovascular Medicine, 2022

Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.

Clemenceau A et al.

Molecular Genetics & Genomic Medicine, 2018

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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."