Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.A2584fs
Back to variants list

LAMA2

NM_000426.4:p.A2584fs

Associated Papers

Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis.

Meyer S et al.

Frontiers in Neurology, 2022

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.

Cauley ES et al.

Molecular Genetics & Genomic Medicine, 2020

LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.

Oliveira J et al.

Human Mutation, 2018

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.

Nelson I et al.

Journal of Neuromuscular Diseases, 2015

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."