Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.C312R
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L1CAM

NM_001278116.2:p.C312R

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

L1cam alternative shorter transcripts encoding the extracellular domains were overexpressed in the intestine of L1cam knockdown mice.

Yang W et al.

Gene, 2023

Hirschsprung Disease in an Infant with L1 syndrome: Report of a New Case and a novel L1CAM variant.

Gauntner TD et al.

Clinical Case Reports, 2021

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