Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.V442A
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LMNA

NM_170707.4:p.V442A

Associated Papers

Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.

Anderson CL et al.

Npj Genomic Medicine, 2021

Familial dilated cardiomyopathy caused by a novel variant in the Lamin A/C gene: a case report.

Huang J et al.

Bmc Cardiovascular Disorders, 2020

Laminopathies; Mutations on single gene and various human genetic diseases.

Kang SM et al.

Bmb Reports, 2018

Life at the edge: the nuclear envelope and human disease.

Burke B et al.

Nature Reviews. Molecular Cell Biology, 2002

The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.

Krimm I et al.

Structure (london, England : 1993), 2002

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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."