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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LAMA2

Variant:p.H666R

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LAMA2

NM_000426.4:p.H666R

hg38:chr6:129252196 A>G

Associated Papers

Limb girdle muscular dystrophy due to mutations in POMT2.

Østergaard ST et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

29175898 (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."