Varaico: Literature-Extracted Genetic Variants

Gene:L1CAM
Variant:p.G441delFs
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L1CAM

NM_001278116.2:p.G441delFs

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

Diagnostic yield of exome sequencing in prenatal agenesis of corpus callosum: systematic review and meta-analysis.

Mustafa HJ et al.

Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2024

Diagnostic yield with exome sequencing in prenatal severe bilateral ventriculomegaly: a systematic review and meta-analysis.

Mustafa HJ et al.

American Journal of Obstetrics & Gynecology Mfm, 2023

L1CAM mutations in three fetuses diagnosed by medical exome sequencing.

Li YT et al.

Taiwanese Journal of Obstetrics & Gynecology, 2020

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