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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LRG1

Variant:p.E76V

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LRG1

NM_052972.3:p.E76V

hg38:chr19:4538757 T>A

Associated Papers

A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy.

Koczok K et al.

Neuromuscular Disorders : Nmd, 2018

29373175 (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."