Varaico: Literature-Extracted Genetic Variants

Gene:DCHS1
Variant:p.S415R
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DCHS1

NM_003737.4:p.S415R

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-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.

Aitkulova A et al.

Biomedical Reports, 2022

35815187 (PubMed )
Supplement: Supplementary_Data.xlsx › 713_shortlisted_variants

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."