Varaico: Literature-Extracted Genetic Variants

Gene:LMNA
Variant:p.D205N
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LMNA

NM_170707.4:p.D205N

Associated Papers

Cardiometabolic assessment of lamin A/C gene mutation carriers: a phenotype-genotype correlation.

Kwapich M et al.

Diabetes & Metabolism, 2019

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

The Increasing Importance of Gene-Based Analyses.

Cirulli ET

Plos Genetics, 2016

27055023 (PubMed )
Supplement: pgen.1005852.s006.xlsx › 745papers

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.

Bayram Y et al.

The Journal of Clinical Investigation, 2016

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

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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."