Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.Q789*
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L1CAM

NM_001278116.2:p.Q789*

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG1

L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.

Christaller WA et al.

Clinical Genetics, 2017

Mutational signatures of de-differentiation in functional non-coding regions of melanoma genomes.

Parker SC et al.

Plos Genetics, 2012

22912592 (PubMed )
Supplement: pgen.1002871.s018.xls › cellCulture
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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."