Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.L342L
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FKTN

NM_001079802.2:p.L342L

Associated Papers

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants

A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene.

Costa C et al.

Neuromuscular Disorders : Nmd, 2013

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s004.pdf

Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy.

Arimura T et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2009

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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."