Varaico: Literature-Extracted Genetic Variants

Gene:DNASE1
Variant:p.V163L
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DNASE1

NM_005223.4:p.V163L

Associated Papers

Myopathy-causing actin mutations promote defects in serum-response factor signalling.

Visegrády B et al.

The Biochemical Journal, 2010

Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.

Feng JJ et al.

Neuromuscular Disorders : Nmd, 2009

Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms.

Ilkovski B et al.

Human Molecular Genetics, 2004

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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."