Varaico: Literature-Extracted Genetic Variants

Gene:LMNB1
Variant:p.E203G
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LMNB1

NM_005573.4:p.E203G

Associated Papers

ERK1/2 Phosphorylation of FHOD Connects Signaling and Nuclear Positioning Alternations in Cardiac Laminopathy.

Antoku S et al.

Developmental Cell, 2019

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

Kang SM et al.

Bmb Reports, 2018

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

Zwerger M et al.

Human Molecular Genetics, 2013

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.

Lloyd DJ et al.

Human Molecular Genetics, 2002

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy.

Ostlund C et al.

Journal of Cell Science, 2001

Mutations in the LMNA gene encoding lamin A/C.

Genschel J et al.

Human Mutation, 2000

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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."