Varaico: Literature-Extracted Genetic Variants

Gene:LAMA2
Variant:p.R2630*
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LAMA2

NM_000426.4:p.R2630*

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

Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.

Tan D et al.

Orphanet Journal of Rare Diseases, 2021

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Zheng J et al.

Molecular Genetics & Genomic Medicine, 2019

31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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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."