Varaico: Literature-Extracted Genetic Variants

Gene:CPOX
Variant:p.M1_A2insFs
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CPOX

NM_000097.7:p.M1_A2insFs

Associated Papers

Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.

Magri F et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020

Late-onset pompe disease in Iran: A clinical and genetic report.

Nazari F et al.

Muscle & Nerve, 2017

Genetic and biochemical studies in Argentinean patients with variegate porphyria.

Rossetti MV et al.

Bmc Medical Genetics, 2008

Nine novel mutations in the protoporphyrinogen oxidase gene in Swedish families with variegate porphyria.

Wiman A et al.

Clinical Genetics, 2003

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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."