Varaico: Literature-Extracted Genetic Variants

Gene:FKTN
Variant:p.C101F
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FKTN

NM_001079802.2:p.C101F

Associated Papers

Homozygous Fukutin Missense Mutation in Two Mexican Siblings with Dilated Cardiomyopathy.

Villarreal-mMolina MT et al.

Revista De Investigacion Clinica; Organo Del Hospital De Enfermedades De La Nutricion, 2020

Fukutin gene mutations that cause left ventricular noncompaction.

Amiya E et al.

International Journal of Cardiology, 2016

A case of pregnancy complicated with dilated cardiomyopathy 1X.

Oki S et al.

Oxford Medical Case Reports, 2015

Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype.

Yis U et al.

Neuromuscular Disorders : Nmd, 2011

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

[Secondary cardiomyopathy accompanied by neuromuscular disorders].

Hayashi Y et al.

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000

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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."