Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.H1564_A1565insFs
Back to variants list

LAMA2

NM_000426.4:p.H1564_A1565insFs

Associated Papers

A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.

Chausova P et al.

International Journal of Molecular Sciences, 2025

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.

Enzmann C et al.

Journal of Neuromuscular Diseases, 2024

Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).

Jayakody H et al.

Journal of Neuropathology and Experimental Neurology, 2020

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .
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."