Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.Q276K
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LMNA

NM_170707.4:p.Q276K

Associated Papers

Advances in Stem Cell Modeling of Dystrophin-Associated Disease: Implications for the Wider World of Dilated Cardiomyopathy.

Pioner JM et al.

Frontiers in Physiology, 2020

The Limb-Girdle Muscular Dystrophies.

Wicklund MP

Continuum (minneapolis, Minn.), 2019

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Özyilmaz B et al.

Annals of Human Genetics, 2019

Hereditary muscular dystrophies and the heart.

Hermans MC et al.

Neuromuscular Disorders : Nmd, 2010

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration.

Bakay M et al.

Brain : a Journal of Neurology, 2006

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.

Brockington M et al.

Human Molecular Genetics, 2001

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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."