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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:L1CAM

Variant:p.R739fs

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L1CAM

NM_001278116.2:p.R739fs

hg38:chrX:153866865 CCG>N

Associated Papers

L1CAM variants cause two distinct imaging phenotypes on fetal MRI.

Accogli A et al.

Annals of Clinical and Translational Neurology, 2021

34510796 (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."