Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.G268D
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L1CAM

NM_001278116.2:p.G268D

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

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.

Adle-Biassette H et al.

Acta Neuropathologica, 2013

Homophilic interaction of the L1 family of cell adhesion molecules.

Wei CH et al.

Experimental & Molecular Medicine, 2012

Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene.

Weller S et al.

Human Mutation, 2001

Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities.

De Angelis E et al.

The Embo Journal, 1999

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

Fransen E et al.

Human Molecular Genetics, 1997

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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."