Varaico: Literature-Extracted Genetic Variants

Gene:FLNC
Variant:p.P200P
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FLNC

NM_001458.5:p.P200P

Associated Papers

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Fedida J et al.

Plos One, 2017

28767663 (PubMed )
Supplement: pone.0181840.s008.xlsx › Feuil1

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1405.506

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

Savarese M et al.

Acta Neuropathologica Communications, 2014

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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."