Varaico: Literature-Extracted Genetic Variants

Gene:DCHS1
Variant:p.R2770Q
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DCHS1

NM_003737.4:p.R2770Q

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

Report of a rare case of congenital mitral valve prolapse with chronic kidney disease--reconsidered genotype-phenotypic correlations.

Sun L et al.

Molecular Genetics & Genomic Medicine, 2021

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."