Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.K175Splc
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L1CAM

NM_001278116.2:p.K175Splc

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

Fetal agenesis of the corpus callosum: Clinical and genetic analysis in a series of 40 patients.

Sun H et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024

Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.

Gao S et al.

Molecular Genetics & Genomic Medicine, 2022

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

Weller S et al.

Human Mutation, 2001

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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."