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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMA2

Variant:p.T2079delFs

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LAMA2

NM_000426.4:p.T2079delFs

hg38:chr6:129440961 CA>C

Associated Papers

Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients.

Huang X et al.

Frontiers in Neurology, 2023

37206914 (PubMed )

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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."