Varaico: Literature-Extracted Genetic Variants

Gene:DCHS1
Variant:p.R2330C
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DCHS1

NM_003737.4:p.R2330C

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

Whole aorta imaging shows increased risk for thoracic aortic aneurysms and dilatations in relatives of abdominal aortic aneurysm patients.

Liu H et al.

Journal of Vascular Surgery, 2025

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Mighton C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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

Human pre-valvular endocardial cells derived from pluripotent stem cells recapitulate cardiac pathophysiological valvulogenesis.

Neri T et al.

Nature Communications, 2019

Genetics of syndromic and non-syndromic mitral valve prolapse.

Le Tourneau T et al.

Heart (british Cardiac Society), 2018

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

Clemenceau A et al.

Molecular Genetics & Genomic Medicine, 2018

Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression.

Lasorsa VA et al.

Oncotarget, 2016

27009842 (PubMed )
Supplement: oncotarget-07-21840-s004.xlsx › Supplementary_Table_3a

Mutations in DCHS1 cause mitral valve prolapse.

Durst R et al.

Nature, 2015

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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."