Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.I179S
Back to variants list

L1CAM

NM_001278116.2:p.I179S

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

NOG-Derived Peptides Can Restore Neuritogenesis on a CRASH Syndrome Cell Model.

Gasparotto M et al.

Biomedicines, 2022

The L1 family of cell adhesion molecules: a sickening number of mutations and protein functions.

Hortsch M et al.

Advances in Neurobiology, 2014

CRASH syndrome: does it teach us about neurotrophic functions of cell adhesion molecules?

Zhang L

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2010

An updated and upgraded L1CAM mutation database.

Vos YJ et al.

Human Mutation, 2010

Missense mutations in the extracellular domain of the human neural cell adhesion molecule L1 reduce neurite outgrowth of murine cerebellar neurons.

Michelson P et al.

Human Mutation, 2002

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

Weller S et al.

Human Mutation, 2001

Genotype-phenotype correlation in L1 associated diseases.

Fransen E et al.

Journal of Medical Genetics, 1998

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

Fransen E et al.

Human Molecular Genetics, 1997

Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

Ruiz JC et al.

Journal of Medical Genetics, 1995

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."