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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMA2

Variant:p.G1512_Y1513delFs

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LAMA2

NM_000426.4:p.G1512_Y1513delFs

hg38:chr6:129353175 GCT>G

Associated Papers

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.

Camelo CG et al.

Journal of Neuromuscular Diseases, 2023

37182895 (PubMed )

Supplement: jnd-10-jnd221638-s001.pdf

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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."