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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LEMD3

Variant:p.M1insFs

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LEMD3

NM_014319.5:p.M1insFs

hg38:chr12:65169597 A>AT

Associated Papers

A novel LEMD3 pathogenic variant in a son and mother with osteopoikilosis.

Elmaoğulları S et al.

The Turkish Journal of Pediatrics, 2019

31990479 (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."