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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:LEMD3

Variant:p.I508Splc

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LEMD3

NM_014319.5:p.I508Splc

hg38:chr12:65171119 G>A

Associated Papers

Familial cutaneous collagenomas resulting from a novel mutation in LEMD3.

Hershkovitz D et al.

The British Journal of Dermatology, 2007

17223882 (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."