Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.A287fs
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LMNA

NM_170707.4:p.A287fs

Associated Papers

Evaluation of a new NGS method based on a custom AmpliSeq library and Ion Torrent PGM sequencing for the fast detection of genetic variations in cardiomyopathies.

Millat G et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene.

Millat G et al.

Clinical Biochemistry, 2009

Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

Millat G et al.

European Journal of Medical Genetics, 0

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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."