Varaico: Literature-Extracted Genetic Variants

Gene:DCHS1
Variant:p.R2827P
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DCHS1

NM_003737.4:p.R2827P

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

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

Clemenceau A et al.

Molecular Genetics & Genomic Medicine, 2018

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A082-01A.domain
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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."