Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.H2627Q
Back to variants list

LAMA2

NM_000426.4:p.H2627Q

Associated Papers

A rare case of arrhythmogenic right ventricular cardiomyopathy associated with LAMA2 mutation: A case report and literature review.

Wang Y et al.

Frontiers in Medicine, 2022

LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.

Zambon AA et al.

Annals of Clinical and Translational Neurology, 2020

Whole Exome Sequencing as a Diagnostic Tool for Unidentified Muscular Dystrophy in a Vietnamese Family.

Nguyen NL et al.

Diagnostics (basel, Switzerland), 2020

Congenital muscular dystrophies in the UK population: Clinical and molecular spectrum of a large cohort diagnosed over a 12-year period.

Sframeli M et al.

Neuromuscular Disorders : Nmd, 2017

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

Nelson I et al.

Journal of Neuromuscular Diseases, 2015

Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.

Geranmayeh F et al.

Neuromuscular Disorders : Nmd, 2010

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."