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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPS12

Variant:p.E71G

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RPS12

NM_001016.4:p.E71G

hg38:chr6:132816541 A>G

Associated Papers

Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A.

Luo SS et al.

Muscle & Nerve, 2012

22926650 (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."