Varaico: Literature-Extracted Genetic Variants

Gene:LEMD2
Variant:p.S479F
Back to variants list

LEMD2

NM_181336.4:p.S479F

Associated Papers

A novel role for CSA in the regulation of nuclear envelope integrity: uncovering a non-canonical function.

Yang D et al.

Life Science Alliance, 2024

LEMD2-associated progeroid syndrome: Expanding the phenotype of the nuclear envelopathy caused by a defect in LEMD2 gene.

Matter A et al.

Aging Cell, 2024

The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.

Lu Z et al.

Clinical Genetics, 2024

The LEM-ESCRT toolkit: Repair and maintenance of the nucleus.

Borah S et al.

Frontiers in Cell and Developmental Biology, 2022

Protein structural and mechanistic basis of progeroid laminopathies.

Marcelot A et al.

The Febs Journal, 2021

The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.

Marbach F et al.

American Journal of Human Genetics, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."