Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.L561L
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LMNA

NM_170707.4:p.L561L

Associated Papers

LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.

Florwick A et al.

Frontiers in Genetics, 2017

28663758 (PubMed )
Supplement: Table_2.XLSX › Sheet1

Overlapping syndromes in laminopathies: a meta-analysis of the reported literature.

Carboni N et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.

Magagnotti C et al.

Biochimica Et Biophysica Acta, 2012

Phenotypic clustering of lamin A/C mutations in neuromuscular patients.

Benedetti S et al.

Neurology, 2007

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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."