Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.R196S
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LMNA

NM_170707.4:p.R196S

Associated Papers

Laminopathies; Mutations on single gene and various human genetic diseases.

Kang SM et al.

Bmb Reports, 2018

Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.

Ahmed MS et al.

Molecular Neurobiology, 2018

Nuclear envelope defects in muscular dystrophy.

Roux KJ et al.

Biochimica Et Biophysica Acta, 2007

The laminopathies: a clinical review.

Rankin J et al.

Clinical Genetics, 2006

Laminopathies: multisystem dystrophy syndromes.

Jacob KN et al.

Molecular Genetics and Metabolism, 2006

The nucleoskeleton: lamins and actin are major players in essential nuclear functions.

Shumaker DK et al.

Current Opinion in Cell Biology, 2003

[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].

Hanisch F et al.

Der Nervenarzt, 2002

Emery-Dreifuss muscular dystrophy.

Helbling-Leclerc A et al.

European Journal of Human Genetics : Ejhg, 2002

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

Brown CA et al.

American Journal of Medical 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."