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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMA2

Variant:p.Y2069*

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LAMA2

NM_000426.4:p.Y2069*

hg38:chr6:129440937 C>G

Associated Papers

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

34281576 (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."