Varaico: Literature-Extracted Genetic Variants

Gene:VCL
Variant:p.H636R
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VCL

NM_014000.3:p.H636R

Associated Papers

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.

Topping J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

39492681 (PubMed )
Supplement: ART-77-582-s014.pdf

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis.

Jaouadi H et al.

Frontiers in Medicine, 2024

Genetic evaluation of cardiomyopathies in Qatar identifies enrichment of pathogenic sarcomere gene variants and possible founder disease mutations in the Arabs.

Al-Shafai KN et al.

Molecular Genetics & Genomic Medicine, 2021

34137518 (PubMed )
Supplement: MGG3-9-e1709-s001.xlsx › Sheet1

Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy.

Jääskeläinen P et al.

Esc Heart Failure, 2019

30775854 (PubMed )
Supplement: EHF2-6-436-s005.xlsx › Taul1

Structural consequences of mutations associated with idiopathic restrictive cardiomyopathy.

Tarnovskaya S et al.

Amino Acids, 2017

Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Mademont-Soler I et al.

Plos One, 2017

28771489 (PubMed )
Supplement: pone.0181465.s002.xlsx › Supplementary_Table_2

Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Sanchez O et al.

Plos One, 2016

The role of clinical, genetic and segregation evaluation in sudden infant death.

Campuzano O et al.

Forensic Science International, 2014

A novel custom resequencing array for dilated cardiomyopathy.

Zimmerman RS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

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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."