Varaico: Literature-Extracted Genetic Variants

Gene:SUN1
Variant:p.L530P
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SUN1

NM_001130965.3:p.L530P

Associated Papers

Cardiac phenotypes in LMNA mutations.

Rouhi L

Current Opinion in Cardiology, 2025

Emery-Dreifuss muscular dystrophy.

Heller SA et al.

Muscle & Nerve, 2020

31840275 (PubMed )
Supplement: MUS-61-436-s001.docx

Impaired mechanical response of an EDMD mutation leads to motility phenotypes that are repaired by loss of prenylation.

Zuela N et al.

Journal of Cell Science, 2016

Systematic identification of pathological lamin A interactors.

Dittmer TA et al.

Molecular Biology of the Cell, 2014

A comparative study of Drosophila and human A-type lamins.

Schulze SR et al.

Plos One, 2009

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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."