Varaico: Literature-Extracted Genetic Variants

Gene:SYNM
Variant:p.R946W
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SYNM

NM_145728.3:p.R946W

Associated Papers

Synemin-related skeletal and cardiac myopathies: an overview of pathogenic variants.

Paulin D et al.

American Journal of Physiology. Cell Physiology, 2020

Mutations in PDLIM5 are rare in dilated cardiomyopathy but are emerging as potential disease modifiers.

Verdonschot JAJ et al.

Molecular Genetics & Genomic Medicine, 2020

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3.

Mizuno Y et al.

Bmc Genetics, 2001

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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."