Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.I219V
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L1CAM

NM_001278116.2:p.I219V

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

Establishment of induced pluripotent stem cell line (ZZUi033-A) of a male with a novel L1CAM missense mutation.

Li S et al.

Stem Cell Research, 2022

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.

Dansault A et al.

Molecular Vision, 2007

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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."